Canonical Allele Identifier: CA420610972
Gene: GJA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147759100_147759101insG , CM000663.2:g.147759100_147759101insG GRCh38
NC_000001.10:g.147231208_147231209insG , CM000663.1:g.147231208_147231209insG GRCh37
NC_000001.9:g.145697832_145697833insG NCBI36
NG_009369.2:g.19274_19275insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.138_139insC MANE Select ENSP00000463851.1:p.Asp47ArgfsTer2
ENST00000430508.1:c.138_139insC ENSP00000407645.1:p.Asp47ArgfsTer2
ENST00000579774.2:c.138_139insC ENSP00000463851.1:p.Asp47ArgfsTer2
ENST00000621517.1:c.138_139insC ENSP00000484552.1:p.Asp47ArgfsTer2
NM_005266.6:c.138_139insC NP_005257.2:p.Asp47ArgfsTer2
NM_181703.3:c.138_139insC NP_859054.1:p.Asp47ArgfsTer2
XM_005272951.3:c.138_139insC XP_005273008.1:p.Asp47ArgfsTer2
XM_011509415.1:c.138_139insC XP_011507717.1:p.Asp47ArgfsTer2
XR_922078.1:n.434-18461_434-18460insG
XR_922079.1:n.434-18461_434-18460insG
XM_005272951.4:c.138_139insC XP_005273008.1:p.Asp47ArgfsTer2
XM_017001044.1:c.138_139insC XP_016856533.1:p.Asp47ArgfsTer2
XR_922079.3:n.744-18461_744-18460insG
NM_181703.4:c.138_139insC MANE Select NP_859054.1:p.Asp47ArgfsTer2
NM_005266.7:c.138_139insC NP_005257.2:p.Asp47ArgfsTer2