Canonical Allele Identifier: CA1199591039
Gene: GJA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758741_147758742delinsGC , CM000663.2:g.147758741_147758742delinsGC GRCh38
NC_000001.10:g.147230849_147230850delinsGC , CM000663.1:g.147230849_147230850delinsGC GRCh37
NC_000001.9:g.145697473_145697474delinsGC NCBI36
NG_009369.2:g.19633_19634delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.497_498delinsGC MANE Select ENSP00000463851.1:p.Gly166=
ENST00000430508.1:c.497_498delinsGC ENSP00000407645.1:p.Gly166=
ENST00000579774.2:c.497_498delinsGC ENSP00000463851.1:p.Gly166=
ENST00000621517.1:c.497_498delinsGC ENSP00000484552.1:p.Gly166=
NM_005266.6:c.497_498delinsGC NP_005257.2:p.Gly166=
NM_181703.3:c.497_498delinsGC NP_859054.1:p.Gly166=
XM_005272951.3:c.497_498delinsGC XP_005273008.1:p.Gly166=
XM_011509415.1:c.497_498delinsGC XP_011507717.1:p.Gly166=
XR_922078.1:n.434-18820_434-18819delinsGC
XR_922079.1:n.434-18820_434-18819delinsGC
XM_005272951.4:c.497_498delinsGC XP_005273008.1:p.Gly166=
XM_017001044.1:c.497_498delinsGC XP_016856533.1:p.Gly166=
XR_922079.3:n.744-18820_744-18819delinsGC
NM_181703.4:c.497_498delinsGC MANE Select NP_859054.1:p.Gly166=
NM_005266.7:c.497_498delinsGC NP_005257.2:p.Gly166=