Canonical Allele Identifier: CA2680195033
Gene: GJA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446828dup , CM000668.2:g.121446828dup GRCh38
NC_000006.11:g.121767974dup , CM000668.1:g.121767974dup GRCh37
NC_000006.10:g.121809673dup NCBI36
NG_008308.1:g.16230dup

Transcript Alleles

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