Links from Gene
Items: 1 to 20 of 1000
1.
rs1491518858 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:144980569
(GRCh38)
4:145901721
(GRCh37)
- Canonical SPDI:
- NC_000004.12:144980567:ATA:A
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491453541 has merged into rs1186853327 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:145027001
(GRCh38)
4:145948153
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145026987:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.145027001_145027021del, NC_000004.12:g.145027002_145027021del, NC_000004.12:g.145027003_145027021del, NC_000004.12:g.145027004_145027021del, NC_000004.12:g.145027005_145027021del, NC_000004.12:g.145027006_145027021del, NC_000004.12:g.145027007_145027021del, NC_000004.12:g.145027008_145027021del, NC_000004.12:g.145027009_145027021del, NC_000004.12:g.145027010_145027021del, NC_000004.12:g.145027011_145027021del, NC_000004.12:g.145027012_145027021del, NC_000004.12:g.145027013_145027021del, NC_000004.12:g.145027014_145027021del, NC_000004.12:g.145027015_145027021del, NC_000004.12:g.145027016_145027021del, NC_000004.12:g.145027017_145027021del, NC_000004.12:g.145027018_145027021del, NC_000004.12:g.145027019_145027021del, NC_000004.12:g.145027020_145027021del, NC_000004.12:g.145027021del, NC_000004.12:g.145027021dup, NC_000004.12:g.145027020_145027021dup, NC_000004.12:g.145027019_145027021dup, NC_000004.12:g.145027018_145027021dup, NC_000004.12:g.145027016_145027021dup, NC_000004.12:g.145027014_145027021dup, NC_000004.11:g.145948153_145948173del, NC_000004.11:g.145948154_145948173del, NC_000004.11:g.145948155_145948173del, NC_000004.11:g.145948156_145948173del, NC_000004.11:g.145948157_145948173del, NC_000004.11:g.145948158_145948173del, NC_000004.11:g.145948159_145948173del, NC_000004.11:g.145948160_145948173del, NC_000004.11:g.145948161_145948173del, NC_000004.11:g.145948162_145948173del, NC_000004.11:g.145948163_145948173del, NC_000004.11:g.145948164_145948173del, NC_000004.11:g.145948165_145948173del, NC_000004.11:g.145948166_145948173del, NC_000004.11:g.145948167_145948173del, NC_000004.11:g.145948168_145948173del, NC_000004.11:g.145948169_145948173del, NC_000004.11:g.145948170_145948173del, NC_000004.11:g.145948171_145948173del, NC_000004.11:g.145948172_145948173del, NC_000004.11:g.145948173del, NC_000004.11:g.145948173dup, NC_000004.11:g.145948172_145948173dup, NC_000004.11:g.145948171_145948173dup, NC_000004.11:g.145948170_145948173dup, NC_000004.11:g.145948168_145948173dup, NC_000004.11:g.145948166_145948173dup
5.
rs1491419326 has merged into rs111592959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATA>-,TATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:145012181
(GRCh38)
4:145933333
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145012176:TATATATATATATATATATA:TATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATATATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATATATATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATATATATATATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATATATATATATATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000004.12:145012176:TATATATATATATATATATA:TATATATATATATATATATATATATATATA
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000004.12:g.145012177TA[2], NC_000004.12:g.145012177TA[6], NC_000004.12:g.145012177TA[8], NC_000004.12:g.145012177TA[9], NC_000004.12:g.145012177TA[11], NC_000004.12:g.145012177TA[12], NC_000004.12:g.145012177TA[13], NC_000004.12:g.145012177TA[14], NC_000004.12:g.145012177TA[15], NC_000004.11:g.145933329TA[2], NC_000004.11:g.145933329TA[6], NC_000004.11:g.145933329TA[8], NC_000004.11:g.145933329TA[9], NC_000004.11:g.145933329TA[11], NC_000004.11:g.145933329TA[12], NC_000004.11:g.145933329TA[13], NC_000004.11:g.145933329TA[14], NC_000004.11:g.145933329TA[15]
6.
rs1491362970 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 4:145036995
(GRCh38)
4:145958147
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145036994:CG:
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
7.
rs1491267292 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:144987982
(GRCh38)
4:145909134
(GRCh37)
- Canonical SPDI:
- NC_000004.12:144987980:TGT:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00031/2
(1000Genomes)
-=0.00059/25
(GnomAD)
- HGVS:
11.
rs1491193653 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 4:145054604
(GRCh38)
4:145975756
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145054603:AG:
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00007/4
(GnomAD)
- HGVS:
14.
rs1491138136 has merged into rs70956823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 4:145054622
(GRCh38)
4:145975774
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:145054604:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGT=0.2224/1114
(1000Genomes)
- HGVS:
NC_000004.12:g.145054606TG[8], NC_000004.12:g.145054606TG[9], NC_000004.12:g.145054606TG[10], NC_000004.12:g.145054606TG[11], NC_000004.12:g.145054606TG[12], NC_000004.12:g.145054606TG[13], NC_000004.12:g.145054606TG[14], NC_000004.12:g.145054606TG[15], NC_000004.12:g.145054606TG[16], NC_000004.12:g.145054606TG[17], NC_000004.12:g.145054606TG[19], NC_000004.12:g.145054606TG[20], NC_000004.12:g.145054606TG[21], NC_000004.12:g.145054606TG[22], NC_000004.12:g.145054606TG[23], NC_000004.12:g.145054606TG[24], NC_000004.12:g.145054606TG[25], NC_000004.11:g.145975758TG[8], NC_000004.11:g.145975758TG[9], NC_000004.11:g.145975758TG[10], NC_000004.11:g.145975758TG[11], NC_000004.11:g.145975758TG[12], NC_000004.11:g.145975758TG[13], NC_000004.11:g.145975758TG[14], NC_000004.11:g.145975758TG[15], NC_000004.11:g.145975758TG[16], NC_000004.11:g.145975758TG[17], NC_000004.11:g.145975758TG[19], NC_000004.11:g.145975758TG[20], NC_000004.11:g.145975758TG[21], NC_000004.11:g.145975758TG[22], NC_000004.11:g.145975758TG[23], NC_000004.11:g.145975758TG[24], NC_000004.11:g.145975758TG[25]
15.
rs1491096702 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:145026988
(GRCh38)
4:145948141
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145026988::A,NC_000004.12:145026988::ATA,NC_000004.12:145026988::ATATA,NC_000004.12:145026988::ATATATA,NC_000004.12:145026988::ATATATATA,NC_000004.12:145026988::ATATATATATA,NC_000004.12:145026988::ATATATATATATA,NC_000004.12:145026988::ATATATATATATATA,NC_000004.12:145026988::ATATATATATATATATA,NC_000004.12:145026988::ATATATATATATATATATA
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.145026988_145026989insA, NC_000004.12:g.145026988_145026989insATA, NC_000004.12:g.145026988_145026989insATATA, NC_000004.12:g.145026988_145026989insATATATA, NC_000004.12:g.145026988_145026989insATATATATA, NC_000004.12:g.145026988_145026989insATATATATATA, NC_000004.12:g.145026988_145026989insATATATATATATA, NC_000004.12:g.145026988_145026989insATATATATATATATA, NC_000004.12:g.145026988_145026989insATATATATATATATATA, NC_000004.12:g.145026988_145026989insATATATATATATATATATA, NC_000004.11:g.145948140_145948141insA, NC_000004.11:g.145948140_145948141insATA, NC_000004.11:g.145948140_145948141insATATA, NC_000004.11:g.145948140_145948141insATATATA, NC_000004.11:g.145948140_145948141insATATATATA, NC_000004.11:g.145948140_145948141insATATATATATA, NC_000004.11:g.145948140_145948141insATATATATATATA, NC_000004.11:g.145948140_145948141insATATATATATATATA, NC_000004.11:g.145948140_145948141insATATATATATATATATA, NC_000004.11:g.145948140_145948141insATATATATATATATATATA
16.
rs1491090648 has merged into rs11455853 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:145052899
(GRCh38)
4:145974051
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:145052887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2015/1009
(1000Genomes)
A=0.325/13
(GENOME_DK)
- HGVS:
NC_000004.12:g.145052899_145052903del, NC_000004.12:g.145052900_145052903del, NC_000004.12:g.145052901_145052903del, NC_000004.12:g.145052902_145052903del, NC_000004.12:g.145052903del, NC_000004.12:g.145052903dup, NC_000004.12:g.145052902_145052903dup, NC_000004.12:g.145052901_145052903dup, NC_000004.12:g.145052895_145052903dup, NC_000004.11:g.145974051_145974055del, NC_000004.11:g.145974052_145974055del, NC_000004.11:g.145974053_145974055del, NC_000004.11:g.145974054_145974055del, NC_000004.11:g.145974055del, NC_000004.11:g.145974055dup, NC_000004.11:g.145974054_145974055dup, NC_000004.11:g.145974053_145974055dup, NC_000004.11:g.145974047_145974055dup, XM_047449505.1:c.*835_*839del, XM_047449505.1:c.*836_*839del, XM_047449505.1:c.*837_*839del, XM_047449505.1:c.*838_*839del, XM_047449505.1:c.*839del, XM_047449505.1:c.*839dup, XM_047449505.1:c.*838_*839dup, XM_047449505.1:c.*837_*839dup, XM_047449505.1:c.*831_*839dup
17.
rs1491087094 has merged into rs34673614 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:144991696
(GRCh38)
4:145912848
(GRCh37)
- Canonical SPDI:
- NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:144991680:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.144991696_144991702del, NC_000004.12:g.144991697_144991702del, NC_000004.12:g.144991698_144991702del, NC_000004.12:g.144991699_144991702del, NC_000004.12:g.144991700_144991702del, NC_000004.12:g.144991701_144991702del, NC_000004.12:g.144991702del, NC_000004.12:g.144991702dup, NC_000004.12:g.144991701_144991702dup, NC_000004.12:g.144991700_144991702dup, NC_000004.12:g.144991699_144991702dup, NC_000004.12:g.144991698_144991702dup, NC_000004.12:g.144991697_144991702dup, NC_000004.11:g.145912848_145912854del, NC_000004.11:g.145912849_145912854del, NC_000004.11:g.145912850_145912854del, NC_000004.11:g.145912851_145912854del, NC_000004.11:g.145912852_145912854del, NC_000004.11:g.145912853_145912854del, NC_000004.11:g.145912854del, NC_000004.11:g.145912854dup, NC_000004.11:g.145912853_145912854dup, NC_000004.11:g.145912852_145912854dup, NC_000004.11:g.145912851_145912854dup, NC_000004.11:g.145912850_145912854dup, NC_000004.11:g.145912849_145912854dup
18.
rs1490991904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:145002550
(GRCh38)
4:145923702
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145002549:A:G
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490976551 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:145001546
(GRCh38)
4:145922698
(GRCh37)
- Canonical SPDI:
- NC_000004.12:145001545:C:
- Gene:
- ANAPC10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS: