Canonical Allele Identifier: CA1162036948

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794464_34794465delinsTC , CM000663.2:g.34794464_34794465delinsTC	GRCh38
NC_000001.10:g.35260065_35260066delinsTC , CM000663.1:g.35260065_35260066delinsTC	GRCh37
NC_000001.9:g.35032652_35032653delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.251_252delinsTC (GJA4) MANE Select	ENSP00000343676.4:p.Phe84=
ENST00000342280.4:c.251_252delinsTC (GJA4)	ENSP00000343676.4:p.Phe84=
ENST00000426886.1:c.207+61306_207+61307delinsGA (SMIM12)	ENSP00000429902.1:n.207+61306_207+61307delinsGA
ENST00000450137.1:c.251_252delinsTC (GJA4)	ENSP00000409186.1:p.Phe84=
NM_002060.2:c.251_252delinsTC (GJA4)	NP_002051.2:p.Phe84=
XM_005270750.1:c.251_252delinsTC (GJA4)	XP_005270807.1:p.Phe84=
XR_947179.1:n.1001+3906_1001+3907delinsGA
XM_005270750.2:c.251_252delinsTC (GJA4)	XP_005270807.1:p.Phe84=
XM_017001043.2:c.251_252delinsTC (GJA4)	XP_016856532.1:p.Phe84=
XR_001737967.1:n.1023+3906_1023+3907delinsGA
NM_002060.3:c.251_252delinsTC (GJA4) MANE Select	NP_002051.2:p.Phe84=