Canonical Allele Identifier: CA526263028

Gene: GJA5

Linked Data

• dbSNP Id: rs1215938230
• gnomAD v2: 1-147229929-T-TAG
• gnomAD v3: 1-147757821-T-TAG
• gnomAD v4: 1-147757821-T-TAG
• MyVariant Identifiers: chr1:g.147229929_147229930insAG (hg19) ; chr1:g.147757821_147757822insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757830_147757831dup , CM000663.2:g.147757830_147757831dup	GRCh38
NC_000001.10:g.147229938_147229939dup , CM000663.1:g.147229938_147229939dup	GRCh37
NC_000001.9:g.145696562_145696563dup	NCBI36
NG_009369.2:g.20552_20553dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.*339_*340dup MANE Select	ENSP00000463851.1:n.*339_*340dup
ENST00000579774.2:c.*339_*340dup	ENSP00000463851.1:n.*339_*340dup
ENST00000621517.1:c.*339_*340dup	ENSP00000484552.1:n.*339_*340dup
NM_005266.6:c.*339_*340dup	NP_005257.2:n.*339_*340dup
NM_181703.3:c.*339_*340dup	NP_859054.1:n.*339_*340dup
XM_005272951.3:c.*339_*340dup	XP_005273008.1:n.*339_*340dup
XM_011509415.1:c.*339_*340dup	XP_011507717.1:n.*339_*340dup
XR_922078.1:n.434-19731_434-19730dup
XR_922079.1:n.434-19731_434-19730dup
XM_005272951.4:c.*339_*340dup	XP_005273008.1:n.*339_*340dup
XM_017001044.1:c.*339_*340dup	XP_016856533.1:n.*339_*340dup
XR_922079.3:n.744-19731_744-19730dup
NM_181703.4:c.*339_*340dup MANE Select	NP_859054.1:n.*339_*340dup
NM_005266.7:c.*339_*340dup	NP_005257.2:n.*339_*340dup