Canonical Allele Identifier: CA1093869912
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1773894626
gnomAD v3: 6-121446686-AAG-A
gnomAD v4: 6-121446686-AAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446689_121446690del , CM000668.2:g.121446689_121446690del GRCh38
NC_000006.11:g.121767835_121767836del , CM000668.1:g.121767835_121767836del GRCh37
NC_000006.10:g.121809534_121809535del NCBI36
NG_008308.1:g.16091_16092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-143_-16-142del MANE Select ENSP00000282561.3:n.-16-143_-16-142del
ENST00000647564.1:c.-16-143_-16-142del ENSP00000497565.1:n.-16-143_-16-142del
ENST00000649003.1:c.-16-143_-16-142del ENSP00000497283.1:n.-16-143_-16-142del
ENST00000650427.1:c.-16-143_-16-142del ENSP00000497367.1:n.-16-143_-16-142del
ENST00000282561.3:c.-16-143_-16-142del ENSP00000282561.3:n.-16-143_-16-142del
NM_000165.4:c.-16-143_-16-142del NP_000156.1:n.-16-143_-16-142del
NM_000165.5:c.-16-143_-16-142del MANE Select NP_000156.1:n.-16-143_-16-142del
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