Canonical Allele Identifier: CA2647660361

Gene: GJA5

Linked Data

• gnomAD v4: 1-147757707-CTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757708_147757710del , CM000663.2:g.147757708_147757710del	GRCh38
NC_000001.10:g.147229816_147229818del , CM000663.1:g.147229816_147229818del	GRCh37
NC_000001.9:g.145696440_145696442del	NCBI36
NG_009369.2:g.20665_20667del

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.*452_*454del MANE Select	ENSP00000463851.1:n.*452_*454del
ENST00000579774.2:c.*452_*454del	ENSP00000463851.1:n.*452_*454del
ENST00000621517.1:c.*452_*454del	ENSP00000484552.1:n.*452_*454del
NM_005266.6:c.*452_*454del	NP_005257.2:n.*452_*454del
NM_181703.3:c.*452_*454del	NP_859054.1:n.*452_*454del
XM_005272951.3:c.*452_*454del	XP_005273008.1:n.*452_*454del
XM_011509415.1:c.*452_*454del	XP_011507717.1:n.*452_*454del
XR_922078.1:n.434-19853_434-19851del
XR_922079.1:n.434-19853_434-19851del
XM_005272951.4:c.*452_*454del	XP_005273008.1:n.*452_*454del
XM_017001044.1:c.*452_*454del	XP_016856533.1:n.*452_*454del
XR_922079.3:n.744-19853_744-19851del
NM_181703.4:c.*452_*454del MANE Select	NP_859054.1:n.*452_*454del
NM_005266.7:c.*452_*454del	NP_005257.2:n.*452_*454del