Canonical Allele Identifier: CA1139659790
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931993
ClinVar RCV Id: RCV001199063
dbSNP Id: rs1773903559
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447243_121447245del , CM000668.2:g.121447243_121447245del GRCh38
NC_000006.11:g.121768389_121768391del , CM000668.1:g.121768389_121768391del GRCh37
NC_000006.10:g.121810088_121810090del NCBI36
NG_008308.1:g.16645_16647del

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.396_398del MANE Select ENSP00000282561.3:p.Ile132_Lys133delinsMe...
ENST00000647564.1:c.396_398del ENSP00000497565.1:p.Ile132_Lys133delinsMe...
ENST00000649003.1:c.396_398del ENSP00000497283.1:p.Ile132_Lys133delinsMe...
ENST00000650427.1:c.396_398del ENSP00000497367.1:p.Ile132_Lys133delinsMe...
ENST00000282561.3:c.396_398del ENSP00000282561.3:p.Ile132_Lys133delinsMe...
NM_000165.4:c.396_398del NP_000156.1:p.Ile132_Lys133delinsMet
NM_000165.5:c.396_398del MANE Select NP_000156.1:p.Ile132_Lys133delinsMet
Search 100 bp 5'
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