Canonical Allele Identifier: CA2680195040
Gene: GJA1 HGNC NCBI

Linked Data

gnomAD v4: 6-121446837-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446840del , CM000668.2:g.121446840del GRCh38
NC_000006.11:g.121767986del , CM000668.1:g.121767986del GRCh37
NC_000006.10:g.121809685del NCBI36
NG_008308.1:g.16242del

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.-8del MANE Select ENSP00000282561.3:n.-8del
ENST00000647564.1:c.-8del ENSP00000497565.1:n.-8del
ENST00000649003.1:c.-8del ENSP00000497283.1:n.-8del
ENST00000650427.1:c.-8del ENSP00000497367.1:n.-8del
ENST00000282561.3:c.-8del ENSP00000282561.3:n.-8del
NM_000165.4:c.-8del NP_000156.1:n.-8del
NM_000165.5:c.-8del MANE Select NP_000156.1:n.-8del
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