Canonical Allele Identifier: CA2680195042
Gene: GJA1 HGNC NCBI

Linked Data

gnomAD v4: 6-121446838-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446838_121446839insT , CM000668.2:g.121446838_121446839insT GRCh38
NC_000006.11:g.121767984_121767985insT , CM000668.1:g.121767984_121767985insT GRCh37
NC_000006.10:g.121809683_121809684insT NCBI36
NG_008308.1:g.16240_16241insT

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.-10_-9insT MANE Select ENSP00000282561.3:n.-10_-9insT
ENST00000647564.1:c.-10_-9insT ENSP00000497565.1:n.-10_-9insT
ENST00000649003.1:c.-10_-9insT ENSP00000497283.1:n.-10_-9insT
ENST00000650427.1:c.-10_-9insT ENSP00000497367.1:n.-10_-9insT
ENST00000282561.3:c.-10_-9insT ENSP00000282561.3:n.-10_-9insT
NM_000165.4:c.-10_-9insT NP_000156.1:n.-10_-9insT
NM_000165.5:c.-10_-9insT MANE Select NP_000156.1:n.-10_-9insT
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