Canonical Allele Identifier: CA2680195057
Gene: GJA1 HGNC NCBI

Linked Data

gnomAD v4: 6-121447513-C-CTT
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447514_121447515dup , CM000668.2:g.121447514_121447515dup GRCh38
NC_000006.11:g.121768660_121768661dup , CM000668.1:g.121768660_121768661dup GRCh37
NC_000006.10:g.121810359_121810360dup NCBI36
NG_008308.1:g.16916_16917dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.667_668dup MANE Select ENSP00000282561.3:p.Leu223PhefsTer2
ENST00000647564.1:c.667_668dup ENSP00000497565.1:p.Leu223PhefsTer2
ENST00000649003.1:c.667_668dup ENSP00000497283.1:p.Leu223PhefsTer2
ENST00000650427.1:c.667_668dup ENSP00000497367.1:p.Leu223PhefsTer2
ENST00000282561.3:c.667_668dup ENSP00000282561.3:p.Leu223PhefsTer2
NM_000165.4:c.667_668dup NP_000156.1:p.Leu223PhefsTer2
NM_000165.5:c.667_668dup MANE Select NP_000156.1:p.Leu223PhefsTer2
Search 100 bp 5'
Search 100 bp 3'