Canonical Allele Identifier: CA1199591389
Gene: GJA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147759003_147759004delinsAC , CM000663.2:g.147759003_147759004delinsAC GRCh38
NC_000001.10:g.147231111_147231112delinsAC , CM000663.1:g.147231111_147231112delinsAC GRCh37
NC_000001.9:g.145697735_145697736delinsAC NCBI36
NG_009369.2:g.19371_19372delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.235_236delinsGT MANE Select ENSP00000463851.1:p.Val79=
ENST00000430508.1:c.235_236delinsGT ENSP00000407645.1:p.Val79=
ENST00000579774.2:c.235_236delinsGT ENSP00000463851.1:p.Val79=
ENST00000621517.1:c.235_236delinsGT ENSP00000484552.1:p.Val79=
NM_005266.6:c.235_236delinsGT NP_005257.2:p.Val79=
NM_181703.3:c.235_236delinsGT NP_859054.1:p.Val79=
XM_005272951.3:c.235_236delinsGT XP_005273008.1:p.Val79=
XM_011509415.1:c.235_236delinsGT XP_011507717.1:p.Val79=
XR_922078.1:n.434-18558_434-18557delinsAC
XR_922079.1:n.434-18558_434-18557delinsAC
XM_005272951.4:c.235_236delinsGT XP_005273008.1:p.Val79=
XM_017001044.1:c.235_236delinsGT XP_016856533.1:p.Val79=
XR_922079.3:n.744-18558_744-18557delinsAC
NM_181703.4:c.235_236delinsGT MANE Select NP_859054.1:p.Val79=
NM_005266.7:c.235_236delinsGT NP_005257.2:p.Val79=