Canonical Allele Identifier: CA2647660365

Gene: GJA5

Linked Data

• gnomAD v4: 1-147757766-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757767_147757768del , CM000663.2:g.147757767_147757768del	GRCh38
NC_000001.10:g.147229875_147229876del , CM000663.1:g.147229875_147229876del	GRCh37
NC_000001.9:g.145696499_145696500del	NCBI36
NG_009369.2:g.20607_20608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.*394_*395del MANE Select	ENSP00000463851.1:n.*394_*395del
ENST00000579774.2:c.*394_*395del	ENSP00000463851.1:n.*394_*395del
ENST00000621517.1:c.*394_*395del	ENSP00000484552.1:n.*394_*395del
NM_005266.6:c.*394_*395del	NP_005257.2:n.*394_*395del
NM_181703.3:c.*394_*395del	NP_859054.1:n.*394_*395del
XM_005272951.3:c.*394_*395del	XP_005273008.1:n.*394_*395del
XM_011509415.1:c.*394_*395del	XP_011507717.1:n.*394_*395del
XR_922078.1:n.434-19794_434-19793del
XR_922079.1:n.434-19794_434-19793del
XM_005272951.4:c.*394_*395del	XP_005273008.1:n.*394_*395del
XM_017001044.1:c.*394_*395del	XP_016856533.1:n.*394_*395del
XR_922079.3:n.744-19794_744-19793del
NM_181703.4:c.*394_*395del MANE Select	NP_859054.1:n.*394_*395del
NM_005266.7:c.*394_*395del	NP_005257.2:n.*394_*395del