Canonical Allele Identifier: CA2647660669

Gene: GJA5

Linked Data

• gnomAD v4: 1-147758924-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758926del , CM000663.2:g.147758926del	GRCh38
NC_000001.10:g.147231034del , CM000663.1:g.147231034del	GRCh37
NC_000001.9:g.145697658del	NCBI36
NG_009369.2:g.19450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.314del MANE Select	ENSP00000463851.1:p.Lys105SerfsTer?
ENST00000430508.1:c.314del	ENSP00000407645.1:p.Lys105SerfsTer?
ENST00000579774.2:c.314del	ENSP00000463851.1:p.Lys105SerfsTer?
ENST00000621517.1:c.314del	ENSP00000484552.1:p.Lys105SerfsTer?
NM_005266.6:c.314del	NP_005257.2:p.Lys105SerfsTer?
NM_181703.3:c.314del	NP_859054.1:p.Lys105SerfsTer?
XM_005272951.3:c.314del	XP_005273008.1:p.Lys105SerfsTer?
XM_011509415.1:c.314del	XP_011507717.1:p.Lys105SerfsTer?
XR_922078.1:n.434-18635del
XR_922079.1:n.434-18635del
XM_005272951.4:c.314del	XP_005273008.1:p.Lys105SerfsTer?
XM_017001044.1:c.314del	XP_016856533.1:p.Lys105SerfsTer?
XR_922079.3:n.744-18635del
NM_181703.4:c.314del MANE Select	NP_859054.1:p.Lys105SerfsTer?
NM_005266.7:c.314del	NP_005257.2:p.Lys105SerfsTer?