Canonical Allele Identifier: CA2647660663

Gene: GJA5

Linked Data

• gnomAD v4: 1-147758558-G-GTAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758559_147758562dup , CM000663.2:g.147758559_147758562dup	GRCh38
NC_000001.10:g.147230667_147230670dup , CM000663.1:g.147230667_147230670dup	GRCh37
NC_000001.9:g.145697291_145697294dup	NCBI36
NG_009369.2:g.19813_19816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.677_680dup MANE Select	ENSP00000463851.1:p.His228LeufsTer21
ENST00000430508.1:c.677_680dup	ENSP00000407645.1:p.His228LeufsTer21
ENST00000579774.2:c.677_680dup	ENSP00000463851.1:p.His228LeufsTer21
ENST00000621517.1:c.677_680dup	ENSP00000484552.1:p.His228LeufsTer21
NM_005266.6:c.677_680dup	NP_005257.2:p.His228LeufsTer21
NM_181703.3:c.677_680dup	NP_859054.1:p.His228LeufsTer21
XM_005272951.3:c.677_680dup	XP_005273008.1:p.His228LeufsTer21
XM_011509415.1:c.677_680dup	XP_011507717.1:p.His228LeufsTer21
XR_922078.1:n.434-19002_434-18999dup
XR_922079.1:n.434-19002_434-18999dup
XM_005272951.4:c.677_680dup	XP_005273008.1:p.His228LeufsTer21
XM_017001044.1:c.677_680dup	XP_016856533.1:p.His228LeufsTer21
XR_922079.3:n.744-19002_744-18999dup
NM_181703.4:c.677_680dup MANE Select	NP_859054.1:p.His228LeufsTer21
NM_005266.7:c.677_680dup	NP_005257.2:p.His228LeufsTer21