Canonical Allele Identifier: CA1199591495
Gene: GJA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147759099_147759100delinsTC , CM000663.2:g.147759099_147759100delinsTC GRCh38
NC_000001.10:g.147231207_147231208delinsTC , CM000663.1:g.147231207_147231208delinsTC GRCh37
NC_000001.9:g.145697831_145697832delinsTC NCBI36
NG_009369.2:g.19275_19276delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.139_140delinsGA MANE Select ENSP00000463851.1:p.Asp47=
ENST00000430508.1:c.139_140delinsGA ENSP00000407645.1:p.Asp47=
ENST00000579774.2:c.139_140delinsGA ENSP00000463851.1:p.Asp47=
ENST00000621517.1:c.139_140delinsGA ENSP00000484552.1:p.Asp47=
NM_005266.6:c.139_140delinsGA NP_005257.2:p.Asp47=
NM_181703.3:c.139_140delinsGA NP_859054.1:p.Asp47=
XM_005272951.3:c.139_140delinsGA XP_005273008.1:p.Asp47=
XM_011509415.1:c.139_140delinsGA XP_011507717.1:p.Asp47=
XR_922078.1:n.434-18462_434-18461delinsTC
XR_922079.1:n.434-18462_434-18461delinsTC
XM_005272951.4:c.139_140delinsGA XP_005273008.1:p.Asp47=
XM_017001044.1:c.139_140delinsGA XP_016856533.1:p.Asp47=
XR_922079.3:n.744-18462_744-18461delinsTC
NM_181703.4:c.139_140delinsGA MANE Select NP_859054.1:p.Asp47=
NM_005266.7:c.139_140delinsGA NP_005257.2:p.Asp47=