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Items: 1 to 20 of 20104

1.

rs1491541508 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    2:222882780 (GRCh38)
    2:223747498 (GRCh37)
    Canonical SPDI:
    NC_000002.12:222882779:TG:
    Gene:
    ACSL3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.01104/180 (ALFA)
    HGVS:

    2.

    rs1491511961 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AC>- [Show Flanks]
      Chromosome:
      2:222914233 (GRCh38)
      2:223778951 (GRCh37)
      Canonical SPDI:
      NC_000002.12:222914232:AC:
      Gene:
      ACSL3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00034/4 (ALFA)
      -=0.00055/1 (Korea1K)
      HGVS:

      3.

      rs1491466621 has merged into rs35845392 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
        Chromosome:
        2:222906632 (GRCh38)
        2:223771350 (GRCh37)
        Canonical SPDI:
        NC_000002.12:222906618:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:222906618:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:222906618:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:222906618:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:222906618:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
        Gene:
        ACSL3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.3868/229 (NorthernSweden)
        T=0.389/1948 (1000Genomes)
        T=0.425/17 (GENOME_DK)
        HGVS:

        4.

        rs1491464457 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          2:222913313 (GRCh38)
          2:223778031 (GRCh37)
          Canonical SPDI:
          NC_000002.12:222913312:CT:
          Gene:
          ACSL3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          -=0.000014/2 (GnomAD)
          HGVS:

          5.

          rs1491340334 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CG [Show Flanks]
            Chromosome:
            2:222914233 (GRCh38)
            2:223778952 (GRCh37)
            Canonical SPDI:
            NC_000002.12:222914233:CG:CGCG
            Gene:
            ACSL3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CGCG=0.00008/1 (ALFA)
            HGVS:

            6.

            rs1491296287 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              2:222906618 (GRCh38)
              2:223771336 (GRCh37)
              Canonical SPDI:
              NC_000002.12:222906617:AT:
              Gene:
              ACSL3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000029/3 (GnomAD)
              HGVS:

              7.

              rs1491280701 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                2:222913625 (GRCh38)
                2:223778343 (GRCh37)
                Canonical SPDI:
                NC_000002.12:222913618:CACACACA:CACACA
                Gene:
                ACSL3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                CACACA=0./0 (ALFA)
                -=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1491267504 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GTAT,GTGTAT [Show Flanks]
                  Chromosome:
                  2:222865824 (GRCh38)
                  2:223730543 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:222865824:T:TGTAT,NC_000002.12:222865824:T:TGTGTAT
                  Gene:
                  ACSL3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TGTGTAT=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491179147 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->CCTG [Show Flanks]
                    Chromosome:
                    2:222865792 (GRCh38)
                    2:223730511 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:222865792::CCTG
                    Gene:
                    ACSL3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CCTG=0./0 (ALFA)
                    CCTG=0.00006/3 (GnomAD)
                    HGVS:

                    10.

                    rs1491170587 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      2:222913619 (GRCh38)
                      2:223778338 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:222913619:A:AA
                      Gene:
                      ACSL3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1491154161 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        2:222934427 (GRCh38)
                        2:223799146 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:222934427:AAAAAAAA:AAAAAAAAA
                        Gene:
                        ACSL3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAA=0.000356/5 (ALFA)
                        A=0.000457/64 (GnomAD)
                        A=0.000708/12 (TOMMO)
                        HGVS:

                        12.

                        rs1491113557 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->GT [Show Flanks]
                          Chromosome:
                          2:222882763 (GRCh38)
                          2:223747482 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:222882763:T:TGT
                          Gene:
                          ACSL3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TGT=0./0 (ALFA)
                          TG=0.00009/5 (GnomAD)
                          HGVS:

                          13.

                          rs1491082419 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            2:222860654 (GRCh38)
                            2:223725373 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:222860654::G
                            Gene:
                            ACSL3 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1491077485 has merged into rs11331027 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              2:222943094 (GRCh38)
                              2:223807812 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222943085:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              ACSL3 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAA=0./0 (ALFA)
                              A=0.116/68 (NorthernSweden)
                              A=0.35/14 (GENOME_DK)
                              HGVS:
                              NC_000002.12:g.222943094_222943099del, NC_000002.12:g.222943098_222943099del, NC_000002.12:g.222943099del, NC_000002.12:g.222943099dup, NC_000002.12:g.222943098_222943099dup, NC_000002.12:g.222943097_222943099dup, NC_000002.12:g.222943096_222943099dup, NC_000002.12:g.222943095_222943099dup, NC_000002.12:g.222943094_222943099dup, NC_000002.12:g.222943092_222943099dup, NC_000002.12:g.222943090_222943099dup, NC_000002.11:g.223807812_223807817del, NC_000002.11:g.223807816_223807817del, NC_000002.11:g.223807817del, NC_000002.11:g.223807817dup, NC_000002.11:g.223807816_223807817dup, NC_000002.11:g.223807815_223807817dup, NC_000002.11:g.223807814_223807817dup, NC_000002.11:g.223807813_223807817dup, NC_000002.11:g.223807812_223807817dup, NC_000002.11:g.223807810_223807817dup, NC_000002.11:g.223807808_223807817dup, NM_004457.5:c.*1440_*1445del, NM_004457.5:c.*1444_*1445del, NM_004457.5:c.*1445del, NM_004457.5:c.*1445dup, NM_004457.5:c.*1444_*1445dup, NM_004457.5:c.*1443_*1445dup, NM_004457.5:c.*1442_*1445dup, NM_004457.5:c.*1441_*1445dup, NM_004457.5:c.*1440_*1445dup, NM_004457.5:c.*1438_*1445dup, NM_004457.5:c.*1436_*1445dup, NM_004457.4:c.*1440_*1445del, NM_004457.4:c.*1444_*1445del, NM_004457.4:c.*1445del, NM_004457.4:c.*1445dup, NM_004457.4:c.*1444_*1445dup, NM_004457.4:c.*1443_*1445dup, NM_004457.4:c.*1442_*1445dup, NM_004457.4:c.*1441_*1445dup, NM_004457.4:c.*1440_*1445dup, NM_004457.4:c.*1438_*1445dup, NM_004457.4:c.*1436_*1445dup, NM_004457.3:c.*1440_*1445del, NM_004457.3:c.*1444_*1445del, NM_004457.3:c.*1445del, NM_004457.3:c.*1445dup, NM_004457.3:c.*1444_*1445dup, NM_004457.3:c.*1443_*1445dup, NM_004457.3:c.*1442_*1445dup, NM_004457.3:c.*1441_*1445dup, NM_004457.3:c.*1440_*1445dup, NM_004457.3:c.*1438_*1445dup, NM_004457.3:c.*1436_*1445dup, NM_203372.3:c.*1440_*1445del, NM_203372.3:c.*1444_*1445del, NM_203372.3:c.*1445del, NM_203372.3:c.*1445dup, NM_203372.3:c.*1444_*1445dup, NM_203372.3:c.*1443_*1445dup, NM_203372.3:c.*1442_*1445dup, NM_203372.3:c.*1441_*1445dup, NM_203372.3:c.*1440_*1445dup, NM_203372.3:c.*1438_*1445dup, NM_203372.3:c.*1436_*1445dup, NM_203372.2:c.*1440_*1445del, NM_203372.2:c.*1444_*1445del, NM_203372.2:c.*1445del, NM_203372.2:c.*1445dup, NM_203372.2:c.*1444_*1445dup, NM_203372.2:c.*1443_*1445dup, NM_203372.2:c.*1442_*1445dup, NM_203372.2:c.*1441_*1445dup, NM_203372.2:c.*1440_*1445dup, NM_203372.2:c.*1438_*1445dup, NM_203372.2:c.*1436_*1445dup, NM_203372.1:c.*1440_*1445del, NM_203372.1:c.*1444_*1445del, NM_203372.1:c.*1445del, NM_203372.1:c.*1445dup, NM_203372.1:c.*1444_*1445dup, NM_203372.1:c.*1443_*1445dup, NM_203372.1:c.*1442_*1445dup, NM_203372.1:c.*1441_*1445dup, NM_203372.1:c.*1440_*1445dup, NM_203372.1:c.*1438_*1445dup, NM_203372.1:c.*1436_*1445dup, NM_001354158.2:c.*1440_*1445del, NM_001354158.2:c.*1444_*1445del, NM_001354158.2:c.*1445del, NM_001354158.2:c.*1445dup, NM_001354158.2:c.*1444_*1445dup, NM_001354158.2:c.*1443_*1445dup, NM_001354158.2:c.*1442_*1445dup, NM_001354158.2:c.*1441_*1445dup, NM_001354158.2:c.*1440_*1445dup, NM_001354158.2:c.*1438_*1445dup, NM_001354158.2:c.*1436_*1445dup, NM_001354158.1:c.*1440_*1445del, NM_001354158.1:c.*1444_*1445del, NM_001354158.1:c.*1445del, NM_001354158.1:c.*1445dup, NM_001354158.1:c.*1444_*1445dup, NM_001354158.1:c.*1443_*1445dup, NM_001354158.1:c.*1442_*1445dup, NM_001354158.1:c.*1441_*1445dup, NM_001354158.1:c.*1440_*1445dup, NM_001354158.1:c.*1438_*1445dup, NM_001354158.1:c.*1436_*1445dup, NM_001354159.2:c.*1440_*1445del, NM_001354159.2:c.*1444_*1445del, NM_001354159.2:c.*1445del, NM_001354159.2:c.*1445dup, NM_001354159.2:c.*1444_*1445dup, NM_001354159.2:c.*1443_*1445dup, NM_001354159.2:c.*1442_*1445dup, NM_001354159.2:c.*1441_*1445dup, NM_001354159.2:c.*1440_*1445dup, NM_001354159.2:c.*1438_*1445dup, NM_001354159.2:c.*1436_*1445dup, NM_001354159.1:c.*1440_*1445del, NM_001354159.1:c.*1444_*1445del, NM_001354159.1:c.*1445del, NM_001354159.1:c.*1445dup, NM_001354159.1:c.*1444_*1445dup, NM_001354159.1:c.*1443_*1445dup, NM_001354159.1:c.*1442_*1445dup, NM_001354159.1:c.*1441_*1445dup, NM_001354159.1:c.*1440_*1445dup, NM_001354159.1:c.*1438_*1445dup, NM_001354159.1:c.*1436_*1445dup

                              15.

                              rs1491066399 has merged into rs71408540 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                2:222882771 (GRCh38)
                                2:223747489 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222882761:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                ACSL3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTT=0./0 (ALFA)
                                HGVS:
                                NC_000002.12:g.222882771_222882780del, NC_000002.12:g.222882772_222882780del, NC_000002.12:g.222882773_222882780del, NC_000002.12:g.222882774_222882780del, NC_000002.12:g.222882775_222882780del, NC_000002.12:g.222882776_222882780del, NC_000002.12:g.222882777_222882780del, NC_000002.12:g.222882778_222882780del, NC_000002.12:g.222882779_222882780del, NC_000002.12:g.222882780del, NC_000002.12:g.222882780dup, NC_000002.12:g.222882779_222882780dup, NC_000002.12:g.222882778_222882780dup, NC_000002.12:g.222882777_222882780dup, NC_000002.12:g.222882776_222882780dup, NC_000002.12:g.222882775_222882780dup, NC_000002.12:g.222882774_222882780dup, NC_000002.12:g.222882773_222882780dup, NC_000002.12:g.222882772_222882780dup, NC_000002.12:g.222882771_222882780dup, NC_000002.12:g.222882769_222882780dup, NC_000002.12:g.222882768_222882780dup, NC_000002.12:g.222882780_222882781insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.222882780_222882781insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.222882780_222882781insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.222882780_222882781insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.222882780_222882781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.223747489_223747498del, NC_000002.11:g.223747490_223747498del, NC_000002.11:g.223747491_223747498del, NC_000002.11:g.223747492_223747498del, NC_000002.11:g.223747493_223747498del, NC_000002.11:g.223747494_223747498del, NC_000002.11:g.223747495_223747498del, NC_000002.11:g.223747496_223747498del, NC_000002.11:g.223747497_223747498del, NC_000002.11:g.223747498del, NC_000002.11:g.223747498dup, NC_000002.11:g.223747497_223747498dup, NC_000002.11:g.223747496_223747498dup, NC_000002.11:g.223747495_223747498dup, NC_000002.11:g.223747494_223747498dup, NC_000002.11:g.223747493_223747498dup, NC_000002.11:g.223747492_223747498dup, NC_000002.11:g.223747491_223747498dup, NC_000002.11:g.223747490_223747498dup, NC_000002.11:g.223747489_223747498dup, NC_000002.11:g.223747487_223747498dup, NC_000002.11:g.223747486_223747498dup, NC_000002.11:g.223747498_223747499insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.223747498_223747499insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.223747498_223747499insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.223747498_223747499insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.223747498_223747499insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                                16.

                                rs1491048984 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  2:222935365 (GRCh38)
                                  2:223800084 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:222935365:TTTTTTT:TTTTTTTT
                                  Gene:
                                  ACSL3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTT=0./0 (ALFA)
                                  T=0.000019/5 (TOPMED)
                                  T=0.000035/1 (TOMMO)
                                  T=0.000036/5 (GnomAD)
                                  T=0.000156/1 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1491024842 has merged into rs113574316 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    2:222868981 (GRCh38)
                                    2:223733699 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:222868969:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    ACSL3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAAAA=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    A=0.275/11 (GENOME_DK)
                                    HGVS:

                                    18.

                                    rs1490964089 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      2:222872825 (GRCh38)
                                      2:223737543 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:222872824:A:C,NC_000002.12:222872824:A:G
                                      Gene:
                                      ACSL3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      C=0.000156/1 (1000Genomes)
                                      HGVS:

                                      19.

                                      rs1490946622 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CA [Show Flanks]
                                        Chromosome:
                                        2:222886460 (GRCh38)
                                        2:223751179 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:222886460:A:ACA
                                        Gene:
                                        ACSL3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        ACA=0./0 (ALFA)
                                        AC=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490930429 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:222887538 (GRCh38)
                                          2:223752256 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:222887537:A:G
                                          Gene:
                                          ACSL3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0./0 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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