Canonical Allele Identifier: CA1199591109
Gene: GJA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758805_147758806delinsAG , CM000663.2:g.147758805_147758806delinsAG GRCh38
NC_000001.10:g.147230913_147230914delinsAG , CM000663.1:g.147230913_147230914delinsAG GRCh37
NC_000001.9:g.145697537_145697538delinsAG NCBI36
NG_009369.2:g.19569_19570delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000579774.3:c.433_434delinsCT MANE Select ENSP00000463851.1:p.Leu145=
ENST00000430508.1:c.433_434delinsCT ENSP00000407645.1:p.Leu145=
ENST00000579774.2:c.433_434delinsCT ENSP00000463851.1:p.Leu145=
ENST00000621517.1:c.433_434delinsCT ENSP00000484552.1:p.Leu145=
NM_005266.6:c.433_434delinsCT NP_005257.2:p.Leu145=
NM_181703.3:c.433_434delinsCT NP_859054.1:p.Leu145=
XM_005272951.3:c.433_434delinsCT XP_005273008.1:p.Leu145=
XM_011509415.1:c.433_434delinsCT XP_011507717.1:p.Leu145=
XR_922078.1:n.434-18756_434-18755delinsAG
XR_922079.1:n.434-18756_434-18755delinsAG
XM_005272951.4:c.433_434delinsCT XP_005273008.1:p.Leu145=
XM_017001044.1:c.433_434delinsCT XP_016856533.1:p.Leu145=
XR_922079.3:n.744-18756_744-18755delinsAG
NM_181703.4:c.433_434delinsCT MANE Select NP_859054.1:p.Leu145=
NM_005266.7:c.433_434delinsCT NP_005257.2:p.Leu145=