Canonical Allele Identifier: CA10633953
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311324
ClinVar RCV Id: RCV000373711
dbSNP Id: rs886050017

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20141547_20141561delinsTCTAT , CM000675.2:g.20141547_20141561delinsTCTAT GRCh38
NC_000013.10:g.20715686_20715700delinsTCTAT , CM000675.1:g.20715686_20715700delinsTCTAT GRCh37
NC_000013.9:g.19613686_19613700delinsTCTAT NCBI36
NG_016399.1:g.24484_24498delinsATAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*420_*434delinsATAGA MANE Select ENSP00000241125.3:n.*420_*434delinsATAGA
ENST00000241125.3:c.*420_*434delinsATAGA ENSP00000241125.3:n.*420_*434delinsATAGA
NM_021954.3:c.*420_*434delinsATAGA NP_068773.2:n.*420_*434delinsATAGA
XM_005266353.1:c.*420_*434delinsATAGA XP_005266410.1:n.*420_*434delinsATAGA
XM_011535048.1:c.*420_*434delinsATAGA XP_011533350.1:n.*420_*434delinsATAGA
XM_011535048.2:c.*420_*434delinsATAGA XP_011533350.1:n.*420_*434delinsATAGA
NM_021954.4:c.*420_*434delinsATAGA MANE Select NP_068773.2:n.*420_*434delinsATAGA