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Select item 14915850311.

rs1491585031 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CT
Chromosome:: no mapping
Canonical SPDI:

Select item 14915785292.

rs1491578529 has merged into rs147009659 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:34467688 (GRCh38)
20:33055493 (GRCh37)
Canonical SPDI:: NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34467678:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITCH (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.34467688_34467702del, NC_000020.11:g.34467689_34467702del, NC_000020.11:g.34467690_34467702del, NC_000020.11:g.34467691_34467702del, NC_000020.11:g.34467692_34467702del, NC_000020.11:g.34467693_34467702del, NC_000020.11:g.34467696_34467702del, NC_000020.11:g.34467697_34467702del, NC_000020.11:g.34467698_34467702del, NC_000020.11:g.34467699_34467702del, NC_000020.11:g.34467700_34467702del, NC_000020.11:g.34467701_34467702del, NC_000020.11:g.34467702del, NC_000020.11:g.34467702dup, NC_000020.11:g.34467701_34467702dup, NC_000020.11:g.34467700_34467702dup, NC_000020.11:g.34467699_34467702dup, NC_000020.11:g.34467698_34467702dup, NC_000020.11:g.34467697_34467702dup, NC_000020.11:g.34467696_34467702dup, NC_000020.11:g.34467695_34467702dup, NC_000020.11:g.34467679_34467702T[32]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.34467694_34467702dup, NC_000020.11:g.34467691_34467702dup, NC_000020.11:g.34467690_34467702dup, NC_000020.11:g.34467689_34467702dup, NC_000020.11:g.34467688_34467702dup, NC_000020.11:g.34467687_34467702dup, NC_000020.11:g.34467685_34467702dup, NC_000020.11:g.34467684_34467702dup, NC_000020.11:g.34467702_34467703insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34467702_34467703insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34467702_34467703insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34467702_34467703insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.33055493_33055507del, NC_000020.10:g.33055494_33055507del, NC_000020.10:g.33055495_33055507del, NC_000020.10:g.33055496_33055507del, NC_000020.10:g.33055497_33055507del, NC_000020.10:g.33055498_33055507del, NC_000020.10:g.33055501_33055507del, NC_000020.10:g.33055502_33055507del, NC_000020.10:g.33055503_33055507del, NC_000020.10:g.33055504_33055507del, NC_000020.10:g.33055505_33055507del, NC_000020.10:g.33055506_33055507del, NC_000020.10:g.33055507del, NC_000020.10:g.33055507dup, NC_000020.10:g.33055506_33055507dup, NC_000020.10:g.33055505_33055507dup, NC_000020.10:g.33055504_33055507dup, NC_000020.10:g.33055503_33055507dup, NC_000020.10:g.33055502_33055507dup, NC_000020.10:g.33055501_33055507dup, NC_000020.10:g.33055500_33055507dup, NC_000020.10:g.33055484_33055507T[32]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.33055499_33055507dup, NC_000020.10:g.33055496_33055507dup, NC_000020.10:g.33055495_33055507dup, NC_000020.10:g.33055494_33055507dup, NC_000020.10:g.33055493_33055507dup, NC_000020.10:g.33055492_33055507dup, NC_000020.10:g.33055490_33055507dup, NC_000020.10:g.33055489_33055507dup, NC_000020.10:g.33055507_33055508insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.33055507_33055508insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.33055507_33055508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.33055507_33055508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.109432_109446del, NG_023206.1:g.109433_109446del, NG_023206.1:g.109434_109446del, NG_023206.1:g.109435_109446del, NG_023206.1:g.109436_109446del, NG_023206.1:g.109437_109446del, NG_023206.1:g.109440_109446del, NG_023206.1:g.109441_109446del, NG_023206.1:g.109442_109446del, NG_023206.1:g.109443_109446del, NG_023206.1:g.109444_109446del, NG_023206.1:g.109445_109446del, NG_023206.1:g.109446del, NG_023206.1:g.109446dup, NG_023206.1:g.109445_109446dup, NG_023206.1:g.109444_109446dup, NG_023206.1:g.109443_109446dup, NG_023206.1:g.109442_109446dup, NG_023206.1:g.109441_109446dup, NG_023206.1:g.109440_109446dup, NG_023206.1:g.109439_109446dup, NG_023206.1:g.109423_109446T[32]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023206.1:g.109438_109446dup, NG_023206.1:g.109435_109446dup, NG_023206.1:g.109434_109446dup, NG_023206.1:g.109433_109446dup, NG_023206.1:g.109432_109446dup, NG_023206.1:g.109431_109446dup, NG_023206.1:g.109429_109446dup, NG_023206.1:g.109428_109446dup, NG_023206.1:g.109446_109447insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.109446_109447insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.109446_109447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.109446_109447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915597643.

rs1491559764 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 20:34503884 (GRCh38)
20:33091689 (GRCh37)
Canonical SPDI:: NC_000020.11:34503883:GG:
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.03586/2635 (GnomAD)
-=0.08024/1218 (TOMMO)
-=0.11765/208 (Korea1K)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000020.11:g.34503884_34503885del, NC_000020.10:g.33091689_33091690del, NG_023206.1:g.145628_145629del

Select item 14915541514.

rs1491554151 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 20:34375042 (GRCh38)
20:32962849 (GRCh37)
Canonical SPDI:: NC_000020.11:34375042:ATT:ATTATT
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATTATT=0.000122/2 (ALFA)
ATT=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34375043_34375045dup, NC_000020.10:g.32962849_32962851dup, NG_023206.1:g.16788_16790dup

Select item 14915383195.

rs1491538319 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 20:34503868 (GRCh38)
20:33091674 (GRCh37)
Canonical SPDI:: NC_000020.11:34503868::TG
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.34503868_34503869insTG, NC_000020.10:g.33091673_33091674insTG, NG_023206.1:g.145612_145613insTG

Select item 14915270596.

rs1491527059 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14915248107.

rs1491524810 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:34379906 (GRCh38)
20:32967712 (GRCh37)
Canonical SPDI:: NC_000020.11:34379905:CT:
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000106/3 (TOMMO)
-=0.000718/87 (GnomAD)
HGVS:: NC_000020.11:g.34379906_34379907del, NC_000020.10:g.32967712_32967713del, NG_023206.1:g.21651_21652del

Select item 14915182908.

rs1491518290 has merged into rs555919518 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 20:34507290 (GRCh38)
20:33095095 (GRCh37)
Canonical SPDI:: NC_000020.11:34507289:GG:G,NC_000020.11:34507289:GG:GGG
Gene:: ITCH (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.07389/1067 (TOMMO)
HGVS:: NC_000020.11:g.34507291del, NC_000020.11:g.34507291dup, NC_000020.10:g.33095096del, NC_000020.10:g.33095096dup, NG_023206.1:g.149035del, NG_023206.1:g.149035dup

Select item 14915164409.

rs1491516440 has merged into rs770951963 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:34371290 (GRCh38)
20:32959096 (GRCh37)
Canonical SPDI:: NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34371279:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITCH (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000020.11:g.34371290_34371302del, NC_000020.11:g.34371291_34371302del, NC_000020.11:g.34371292_34371302del, NC_000020.11:g.34371293_34371302del, NC_000020.11:g.34371294_34371302del, NC_000020.11:g.34371295_34371302del, NC_000020.11:g.34371296_34371302del, NC_000020.11:g.34371297_34371302del, NC_000020.11:g.34371298_34371302del, NC_000020.11:g.34371299_34371302del, NC_000020.11:g.34371300_34371302del, NC_000020.11:g.34371301_34371302del, NC_000020.11:g.34371302del, NC_000020.11:g.34371302dup, NC_000020.11:g.34371301_34371302dup, NC_000020.11:g.34371300_34371302dup, NC_000020.11:g.34371299_34371302dup, NC_000020.11:g.34371298_34371302dup, NC_000020.11:g.34371297_34371302dup, NC_000020.11:g.34371296_34371302dup, NC_000020.11:g.34371295_34371302dup, NC_000020.11:g.34371294_34371302dup, NC_000020.11:g.34371302_34371303insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32959096_32959108del, NC_000020.10:g.32959097_32959108del, NC_000020.10:g.32959098_32959108del, NC_000020.10:g.32959099_32959108del, NC_000020.10:g.32959100_32959108del, NC_000020.10:g.32959101_32959108del, NC_000020.10:g.32959102_32959108del, NC_000020.10:g.32959103_32959108del, NC_000020.10:g.32959104_32959108del, NC_000020.10:g.32959105_32959108del, NC_000020.10:g.32959106_32959108del, NC_000020.10:g.32959107_32959108del, NC_000020.10:g.32959108del, NC_000020.10:g.32959108dup, NC_000020.10:g.32959107_32959108dup, NC_000020.10:g.32959106_32959108dup, NC_000020.10:g.32959105_32959108dup, NC_000020.10:g.32959104_32959108dup, NC_000020.10:g.32959103_32959108dup, NC_000020.10:g.32959102_32959108dup, NC_000020.10:g.32959101_32959108dup, NC_000020.10:g.32959100_32959108dup, NC_000020.10:g.32959108_32959109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.13035_13047del, NG_023206.1:g.13036_13047del, NG_023206.1:g.13037_13047del, NG_023206.1:g.13038_13047del, NG_023206.1:g.13039_13047del, NG_023206.1:g.13040_13047del, NG_023206.1:g.13041_13047del, NG_023206.1:g.13042_13047del, NG_023206.1:g.13043_13047del, NG_023206.1:g.13044_13047del, NG_023206.1:g.13045_13047del, NG_023206.1:g.13046_13047del, NG_023206.1:g.13047del, NG_023206.1:g.13047dup, NG_023206.1:g.13046_13047dup, NG_023206.1:g.13045_13047dup, NG_023206.1:g.13044_13047dup, NG_023206.1:g.13043_13047dup, NG_023206.1:g.13042_13047dup, NG_023206.1:g.13041_13047dup, NG_023206.1:g.13040_13047dup, NG_023206.1:g.13039_13047dup, NG_023206.1:g.13047_13048insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149150048610.

rs1491500486 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA,TTTTTTTTTTTTTTTTTTTTTTAA [Show Flanks]
Chromosome:: 20:34510470 (GRCh38)
20:33098276 (GRCh37)
Canonical SPDI:: NC_000020.11:34510470::TA,NC_000020.11:34510470::TTA,NC_000020.11:34510470::TTTTTTTTTTTTTTTTTTTTTTAA
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
TA=0.00048/8 (TOMMO)
HGVS:: NC_000020.11:g.34510470_34510471insTA, NC_000020.11:g.34510470_34510471insTTA, NC_000020.11:g.34510470_34510471insTTTTTTTTTTTTTTTTTTTTTTAA, NC_000020.10:g.33098275_33098276insTA, NC_000020.10:g.33098275_33098276insTTA, NC_000020.10:g.33098275_33098276insTTTTTTTTTTTTTTTTTTTTTTAA, NG_023206.1:g.152214_152215insTA, NG_023206.1:g.152214_152215insTTA, NG_023206.1:g.152214_152215insTTTTTTTTTTTTTTTTTTTTTTAA, NM_031483.7:c.*2676_*2677insTA, NM_031483.7:c.*2676_*2677insTTA, NM_031483.7:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_031483.6:c.*2676_*2677insTA, NM_031483.6:c.*2676_*2677insTTA, NM_031483.6:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_031483.5:c.*2676_*2677insTA, NM_031483.5:c.*2676_*2677insTTA, NM_031483.5:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001257137.3:c.*2676_*2677insTA, NM_001257137.3:c.*2676_*2677insTTA, NM_001257137.3:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001257137.2:c.*2676_*2677insTA, NM_001257137.2:c.*2676_*2677insTTA, NM_001257137.2:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001257137.1:c.*2676_*2677insTA, NM_001257137.1:c.*2676_*2677insTTA, NM_001257137.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001257138.3:c.*2676_*2677insTA, NM_001257138.3:c.*2676_*2677insTTA, NM_001257138.3:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001257138.2:c.*2676_*2677insTA, NM_001257138.2:c.*2676_*2677insTTA, NM_001257138.2:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001257138.1:c.*2676_*2677insTA, NM_001257138.1:c.*2676_*2677insTTA, NM_001257138.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001324197.2:c.*2676_*2677insTA, NM_001324197.2:c.*2676_*2677insTTA, NM_001324197.2:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001324197.1:c.*2676_*2677insTA, NM_001324197.1:c.*2676_*2677insTTA, NM_001324197.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001324198.2:c.*2676_*2677insTA, NM_001324198.2:c.*2676_*2677insTTA, NM_001324198.2:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, NM_001324198.1:c.*2676_*2677insTA, NM_001324198.1:c.*2676_*2677insTTA, NM_001324198.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_017028089.2:c.*2676_*2677insTA, XM_017028089.2:c.*2676_*2677insTTA, XM_017028089.2:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_017028089.1:c.*2676_*2677insTA, XM_017028089.1:c.*2676_*2677insTTA, XM_017028089.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_024452005.2:c.*2676_*2677insTA, XM_024452005.2:c.*2676_*2677insTTA, XM_024452005.2:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_024452005.1:c.*2676_*2677insTA, XM_024452005.1:c.*2676_*2677insTTA, XM_024452005.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_047440532.1:c.*2676_*2677insTA, XM_047440532.1:c.*2676_*2677insTTA, XM_047440532.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_047440534.1:c.*2676_*2677insTA, XM_047440534.1:c.*2676_*2677insTTA, XM_047440534.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_047440535.1:c.*2676_*2677insTA, XM_047440535.1:c.*2676_*2677insTTA, XM_047440535.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_047440533.1:c.*2676_*2677insTA, XM_047440533.1:c.*2676_*2677insTTA, XM_047440533.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_047440536.1:c.*2676_*2677insTA, XM_047440536.1:c.*2676_*2677insTTA, XM_047440536.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA, XM_047440537.1:c.*2676_*2677insTA, XM_047440537.1:c.*2676_*2677insTTA, XM_047440537.1:c.*2676_*2677insTTTTTTTTTTTTTTTTTTTTTTAA

Select item 149149930611.

rs1491499306 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:34445280 (GRCh38)
20:33033085 (GRCh37)
Canonical SPDI:: NC_000020.11:34445279:GA:
Gene:: ITCH (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: -=0.030981/410 (ALFA)
-=0.036796/4317 (ExAC)
HGVS:: NC_000020.11:g.34445280_34445281del, NC_000020.10:g.33033085_33033086del, NG_023206.1:g.87024_87025del

Select item 149149511912.

rs1491495119 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA [Show Flanks]
Chromosome:: 20:34456215 (GRCh38)
20:33044021 (GRCh37)
Canonical SPDI:: NC_000020.11:34456215::A,NC_000020.11:34456215::ATA,NC_000020.11:34456215::ATATA,NC_000020.11:34456215::ATATATA,NC_000020.11:34456215::ATATATATA,NC_000020.11:34456215::ATATATATATA,NC_000020.11:34456215::ATATATATATATA
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATATA=0.000004/1 (TOPMED)
ATA=0.000052/1 (GnomAD)
A=0.000739/14 (TOMMO)
HGVS:: NC_000020.11:g.34456215_34456216insA, NC_000020.11:g.34456215_34456216insATA, NC_000020.11:g.34456215_34456216insATATA, NC_000020.11:g.34456215_34456216insATATATA, NC_000020.11:g.34456215_34456216insATATATATA, NC_000020.11:g.34456215_34456216insATATATATATA, NC_000020.11:g.34456215_34456216insATATATATATATA, NC_000020.10:g.33044020_33044021insA, NC_000020.10:g.33044020_33044021insATA, NC_000020.10:g.33044020_33044021insATATA, NC_000020.10:g.33044020_33044021insATATATA, NC_000020.10:g.33044020_33044021insATATATATA, NC_000020.10:g.33044020_33044021insATATATATATA, NC_000020.10:g.33044020_33044021insATATATATATATA, NG_023206.1:g.97959_97960insA, NG_023206.1:g.97959_97960insATA, NG_023206.1:g.97959_97960insATATA, NG_023206.1:g.97959_97960insATATATA, NG_023206.1:g.97959_97960insATATATATA, NG_023206.1:g.97959_97960insATATATATATA, NG_023206.1:g.97959_97960insATATATATATATA

Select item 149148724813.

rs1491487248 has merged into rs770240058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:34414466 (GRCh38)
20:33002272 (GRCh37)
Canonical SPDI:: NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34414457:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.34414466_34414483del, NC_000020.11:g.34414467_34414483del, NC_000020.11:g.34414468_34414483del, NC_000020.11:g.34414469_34414483del, NC_000020.11:g.34414470_34414483del, NC_000020.11:g.34414471_34414483del, NC_000020.11:g.34414472_34414483del, NC_000020.11:g.34414473_34414483del, NC_000020.11:g.34414474_34414483del, NC_000020.11:g.34414475_34414483del, NC_000020.11:g.34414476_34414483del, NC_000020.11:g.34414477_34414483del, NC_000020.11:g.34414478_34414483del, NC_000020.11:g.34414479_34414483del, NC_000020.11:g.34414480_34414483del, NC_000020.11:g.34414481_34414483del, NC_000020.11:g.34414482_34414483del, NC_000020.11:g.34414483del, NC_000020.11:g.34414483dup, NC_000020.11:g.34414482_34414483dup, NC_000020.11:g.34414481_34414483dup, NC_000020.11:g.34414480_34414483dup, NC_000020.11:g.34414478_34414483dup, NC_000020.10:g.33002272_33002289del, NC_000020.10:g.33002273_33002289del, NC_000020.10:g.33002274_33002289del, NC_000020.10:g.33002275_33002289del, NC_000020.10:g.33002276_33002289del, NC_000020.10:g.33002277_33002289del, NC_000020.10:g.33002278_33002289del, NC_000020.10:g.33002279_33002289del, NC_000020.10:g.33002280_33002289del, NC_000020.10:g.33002281_33002289del, NC_000020.10:g.33002282_33002289del, NC_000020.10:g.33002283_33002289del, NC_000020.10:g.33002284_33002289del, NC_000020.10:g.33002285_33002289del, NC_000020.10:g.33002286_33002289del, NC_000020.10:g.33002287_33002289del, NC_000020.10:g.33002288_33002289del, NC_000020.10:g.33002289del, NC_000020.10:g.33002289dup, NC_000020.10:g.33002288_33002289dup, NC_000020.10:g.33002287_33002289dup, NC_000020.10:g.33002286_33002289dup, NC_000020.10:g.33002284_33002289dup, NG_023206.1:g.56211_56228del, NG_023206.1:g.56212_56228del, NG_023206.1:g.56213_56228del, NG_023206.1:g.56214_56228del, NG_023206.1:g.56215_56228del, NG_023206.1:g.56216_56228del, NG_023206.1:g.56217_56228del, NG_023206.1:g.56218_56228del, NG_023206.1:g.56219_56228del, NG_023206.1:g.56220_56228del, NG_023206.1:g.56221_56228del, NG_023206.1:g.56222_56228del, NG_023206.1:g.56223_56228del, NG_023206.1:g.56224_56228del, NG_023206.1:g.56225_56228del, NG_023206.1:g.56226_56228del, NG_023206.1:g.56227_56228del, NG_023206.1:g.56228del, NG_023206.1:g.56228dup, NG_023206.1:g.56227_56228dup, NG_023206.1:g.56226_56228dup, NG_023206.1:g.56225_56228dup, NG_023206.1:g.56223_56228dup

Select item 149146286614.

rs1491462866 has merged into rs546555130 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:34390453 (GRCh38)
20:32978259 (GRCh37)
Canonical SPDI:: NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34390443:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITCH (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.14058/704 (1000Genomes)
HGVS:: NC_000020.11:g.34390453_34390468del, NC_000020.11:g.34390454_34390468del, NC_000020.11:g.34390455_34390468del, NC_000020.11:g.34390456_34390468del, NC_000020.11:g.34390457_34390468del, NC_000020.11:g.34390458_34390468del, NC_000020.11:g.34390459_34390468del, NC_000020.11:g.34390460_34390468del, NC_000020.11:g.34390461_34390468del, NC_000020.11:g.34390462_34390468del, NC_000020.11:g.34390463_34390468del, NC_000020.11:g.34390464_34390468del, NC_000020.11:g.34390465_34390468del, NC_000020.11:g.34390466_34390468del, NC_000020.11:g.34390467_34390468del, NC_000020.11:g.34390468del, NC_000020.11:g.34390468dup, NC_000020.11:g.34390467_34390468dup, NC_000020.11:g.34390466_34390468dup, NC_000020.11:g.34390465_34390468dup, NC_000020.11:g.34390464_34390468dup, NC_000020.11:g.34390463_34390468dup, NC_000020.11:g.34390462_34390468dup, NC_000020.11:g.34390461_34390468dup, NC_000020.11:g.34390460_34390468dup, NC_000020.11:g.34390459_34390468dup, NC_000020.11:g.34390458_34390468dup, NC_000020.11:g.34390457_34390468dup, NC_000020.11:g.34390456_34390468dup, NC_000020.11:g.34390455_34390468dup, NC_000020.11:g.34390454_34390468dup, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.34390468_34390469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978259_32978274del, NC_000020.10:g.32978260_32978274del, NC_000020.10:g.32978261_32978274del, NC_000020.10:g.32978262_32978274del, NC_000020.10:g.32978263_32978274del, NC_000020.10:g.32978264_32978274del, NC_000020.10:g.32978265_32978274del, NC_000020.10:g.32978266_32978274del, NC_000020.10:g.32978267_32978274del, NC_000020.10:g.32978268_32978274del, NC_000020.10:g.32978269_32978274del, NC_000020.10:g.32978270_32978274del, NC_000020.10:g.32978271_32978274del, NC_000020.10:g.32978272_32978274del, NC_000020.10:g.32978273_32978274del, NC_000020.10:g.32978274del, NC_000020.10:g.32978274dup, NC_000020.10:g.32978273_32978274dup, NC_000020.10:g.32978272_32978274dup, NC_000020.10:g.32978271_32978274dup, NC_000020.10:g.32978270_32978274dup, NC_000020.10:g.32978269_32978274dup, NC_000020.10:g.32978268_32978274dup, NC_000020.10:g.32978267_32978274dup, NC_000020.10:g.32978266_32978274dup, NC_000020.10:g.32978265_32978274dup, NC_000020.10:g.32978264_32978274dup, NC_000020.10:g.32978263_32978274dup, NC_000020.10:g.32978262_32978274dup, NC_000020.10:g.32978261_32978274dup, NC_000020.10:g.32978260_32978274dup, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.32978274_32978275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32198_32213del, NG_023206.1:g.32199_32213del, NG_023206.1:g.32200_32213del, NG_023206.1:g.32201_32213del, NG_023206.1:g.32202_32213del, NG_023206.1:g.32203_32213del, NG_023206.1:g.32204_32213del, NG_023206.1:g.32205_32213del, NG_023206.1:g.32206_32213del, NG_023206.1:g.32207_32213del, NG_023206.1:g.32208_32213del, NG_023206.1:g.32209_32213del, NG_023206.1:g.32210_32213del, NG_023206.1:g.32211_32213del, NG_023206.1:g.32212_32213del, NG_023206.1:g.32213del, NG_023206.1:g.32213dup, NG_023206.1:g.32212_32213dup, NG_023206.1:g.32211_32213dup, NG_023206.1:g.32210_32213dup, NG_023206.1:g.32209_32213dup, NG_023206.1:g.32208_32213dup, NG_023206.1:g.32207_32213dup, NG_023206.1:g.32206_32213dup, NG_023206.1:g.32205_32213dup, NG_023206.1:g.32204_32213dup, NG_023206.1:g.32203_32213dup, NG_023206.1:g.32202_32213dup, NG_023206.1:g.32201_32213dup, NG_023206.1:g.32200_32213dup, NG_023206.1:g.32199_32213dup, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023206.1:g.32213_32214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149143663515.

rs1491436635 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:34428566 (GRCh38)
20:33016372 (GRCh37)
Canonical SPDI:: NC_000020.11:34428564:TCT:T
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34428566_34428567del, NC_000020.10:g.33016372_33016373del, NG_023206.1:g.70311_70312del

Select item 149141998116.

rs1491419981 [Homo sapiens]

Variant type:: SNV:
Alleles:: GC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149139487117.

rs1491394871 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 20:34400647 (GRCh38)
20:32988454 (GRCh37)
Canonical SPDI:: NC_000020.11:34400647:TT:TTCTT
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00008/1 (ALFA)
TTC=0.00011/1 (TOMMO)
TTC=0.00026/7 (GnomAD)
HGVS:: NC_000020.11:g.34400649_34400650insCTT, NC_000020.10:g.32988455_32988456insCTT, NG_023206.1:g.42394_42395insCTT

Select item 149138373818.

rs1491383738 has merged into rs1403145772 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 20:34379907 (GRCh38)
20:32967713 (GRCh37)
Canonical SPDI:: NC_000020.11:34379906:TTTTTTTTT:TTTTTTTT,NC_000020.11:34379906:TTTTTTTTT:TTTTTTTTTT
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.00519/86 (TOMMO)
-=0.00602/11 (Korea1K)
HGVS:: NC_000020.11:g.34379915del, NC_000020.11:g.34379915dup, NC_000020.10:g.32967721del, NC_000020.10:g.32967721dup, NG_023206.1:g.21660del, NG_023206.1:g.21660dup

Select item 149138179119.

rs1491381791 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:34504615 (GRCh38)
20:33092420 (GRCh37)
Canonical SPDI:: NC_000020.11:34504613:TCT:T
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.34504615_34504616del, NC_000020.10:g.33092420_33092421del, NG_023206.1:g.146359_146360del

Select item 149137556620.

rs1491375566 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:34418758 (GRCh38)
20:33006565 (GRCh37)
Canonical SPDI:: NC_000020.11:34418758::C
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.00007/2 (GnomAD)
HGVS:: NC_000020.11:g.34418758_34418759insC, NC_000020.10:g.33006564_33006565insC, NG_023206.1:g.60503_60504insC

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