Canonical Allele Identifier: CA2647660671

Gene: GJA5

Linked Data

• gnomAD v4: 1-147759070-TCGTATCACAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759073_147759082del , CM000663.2:g.147759073_147759082del	GRCh38
NC_000001.10:g.147231181_147231190del , CM000663.1:g.147231181_147231190del	GRCh37
NC_000001.9:g.145697805_145697814del	NCBI36
NG_009369.2:g.19295_19304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.159_168del MANE Select	ENSP00000463851.1:p.Cys54PhefsTer?
ENST00000430508.1:c.159_168del	ENSP00000407645.1:p.Cys54PhefsTer?
ENST00000579774.2:c.159_168del	ENSP00000463851.1:p.Cys54PhefsTer?
ENST00000621517.1:c.159_168del	ENSP00000484552.1:p.Cys54PhefsTer?
NM_005266.6:c.159_168del	NP_005257.2:p.Cys54PhefsTer?
NM_181703.3:c.159_168del	NP_859054.1:p.Cys54PhefsTer?
XM_005272951.3:c.159_168del	XP_005273008.1:p.Cys54PhefsTer?
XM_011509415.1:c.159_168del	XP_011507717.1:p.Cys54PhefsTer?
XR_922078.1:n.434-18488_434-18479del
XR_922079.1:n.434-18488_434-18479del
XM_005272951.4:c.159_168del	XP_005273008.1:p.Cys54PhefsTer?
XM_017001044.1:c.159_168del	XP_016856533.1:p.Cys54PhefsTer?
XR_922079.3:n.744-18488_744-18479del
NM_181703.4:c.159_168del MANE Select	NP_859054.1:p.Cys54PhefsTer?
NM_005266.7:c.159_168del	NP_005257.2:p.Cys54PhefsTer?