Canonical Allele Identifier: CA2680195048
Gene: GJA1 HGNC NCBI

Linked Data

gnomAD v4: 6-121446882-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446883del , CM000668.2:g.121446883del GRCh38
NC_000006.11:g.121768029del , CM000668.1:g.121768029del GRCh37
NC_000006.10:g.121809728del NCBI36
NG_008308.1:g.16285del

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.36del MANE Select ENSP00000282561.3:p.Asp12GlufsTer?
ENST00000647564.1:c.36del ENSP00000497565.1:p.Asp12GlufsTer?
ENST00000649003.1:c.36del ENSP00000497283.1:p.Asp12GlufsTer?
ENST00000650427.1:c.36del ENSP00000497367.1:p.Asp12GlufsTer?
ENST00000282561.3:c.36del ENSP00000282561.3:p.Asp12GlufsTer?
NM_000165.4:c.36del NP_000156.1:p.Asp12GlufsTer?
NM_000165.5:c.36del MANE Select NP_000156.1:p.Asp12GlufsTer?
Search 100 bp 5'
Search 100 bp 3'