Canonical Allele Identifier: CA1659501558
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1773902444
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447162del , CM000668.2:g.121447162del GRCh38
NC_000006.11:g.121768308del , CM000668.1:g.121768308del GRCh37
NC_000006.10:g.121810007del NCBI36
NG_008308.1:g.16564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.315del MANE Select ENSP00000282561.3:p.Lys105AsnfsTer2
ENST00000647564.1:c.315del ENSP00000497565.1:p.Lys105AsnfsTer2
ENST00000649003.1:c.315del ENSP00000497283.1:p.Lys105AsnfsTer2
ENST00000650427.1:c.315del ENSP00000497367.1:p.Lys105AsnfsTer2
ENST00000282561.3:c.315del ENSP00000282561.3:p.Lys105AsnfsTer2
NM_000165.4:c.315del NP_000156.1:p.Lys105AsnfsTer2
NM_000165.5:c.315del MANE Select NP_000156.1:p.Lys105AsnfsTer2
Search 100 bp 5'
Search 100 bp 3'