Canonical Allele Identifier: CA1199591177
Gene: GJA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758868_147758870delinsTCG , CM000663.2:g.147758868_147758870delinsTCG GRCh38
NC_000001.10:g.147230976_147230978delinsTCG , CM000663.1:g.147230976_147230978delinsTCG GRCh37
NC_000001.9:g.145697600_145697602delinsTCG NCBI36
NG_009369.2:g.19505_19507delinsCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.369_371delinsCGA MANE Select ENSP00000463851.1:p.Tyr123=
ENST00000430508.1:c.369_371delinsCGA ENSP00000407645.1:p.Tyr123=
ENST00000579774.2:c.369_371delinsCGA ENSP00000463851.1:p.Tyr123=
ENST00000621517.1:c.369_371delinsCGA ENSP00000484552.1:p.Tyr123=
NM_005266.6:c.369_371delinsCGA NP_005257.2:p.Tyr123=
NM_181703.3:c.369_371delinsCGA NP_859054.1:p.Tyr123=
XM_005272951.3:c.369_371delinsCGA XP_005273008.1:p.Tyr123=
XM_011509415.1:c.369_371delinsCGA XP_011507717.1:p.Tyr123=
XR_922078.1:n.434-18693_434-18691delinsTCG
XR_922079.1:n.434-18693_434-18691delinsTCG
XM_005272951.4:c.369_371delinsCGA XP_005273008.1:p.Tyr123=
XM_017001044.1:c.369_371delinsCGA XP_016856533.1:p.Tyr123=
XR_922079.3:n.744-18693_744-18691delinsTCG
NM_181703.4:c.369_371delinsCGA MANE Select NP_859054.1:p.Tyr123=
NM_005266.7:c.369_371delinsCGA NP_005257.2:p.Tyr123=