Canonical Allele Identifier: CA2743144318

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794375_34794376del , CM000663.2:g.34794375_34794376del	GRCh38
NC_000001.10:g.35259976_35259977del , CM000663.1:g.35259976_35259977del	GRCh37
NC_000001.9:g.35032563_35032564del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.162_163del (GJA4) MANE Select	ENSP00000343676.4:p.Cys54Ter
ENST00000342280.4:c.162_163del (GJA4)	ENSP00000343676.4:p.Cys54Ter
ENST00000426886.1:c.207+61395_207+61396del (SMIM12)	ENSP00000429902.1:n.207+61395_207+61396del
ENST00000450137.1:c.162_163del (GJA4)	ENSP00000409186.1:p.Cys54Ter
NM_002060.2:c.162_163del (GJA4)	NP_002051.2:p.Cys54Ter
XM_005270750.1:c.162_163del (GJA4)	XP_005270807.1:p.Cys54Ter
XR_947179.1:n.1001+3995_1001+3996del
XM_005270750.2:c.162_163del (GJA4)	XP_005270807.1:p.Cys54Ter
XM_017001043.2:c.162_163del (GJA4)	XP_016856532.1:p.Cys54Ter
XR_001737967.1:n.1023+3995_1023+3996del
NM_002060.3:c.162_163del (GJA4) MANE Select	NP_002051.2:p.Cys54Ter