Canonical Allele Identifier: CA2644771204

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794362-C-CTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794362_34794363insTGTGT , CM000663.2:g.34794362_34794363insTGTGT	GRCh38
NC_000001.10:g.35259963_35259964insTGTGT , CM000663.1:g.35259963_35259964insTGTGT	GRCh37
NC_000001.9:g.35032550_35032551insTGTGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.149_150insTGTGT (GJA4) MANE Select	ENSP00000343676.4:p.Asp51ValfsTer2
ENST00000342280.4:c.149_150insTGTGT (GJA4)	ENSP00000343676.4:p.Asp51ValfsTer2
ENST00000426886.1:c.207+61408_207+61409insACACA (SMIM12)	ENSP00000429902.1:n.207+61408_207+61409insACACA
ENST00000450137.1:c.149_150insTGTGT (GJA4)	ENSP00000409186.1:p.Asp51ValfsTer2
NM_002060.2:c.149_150insTGTGT (GJA4)	NP_002051.2:p.Asp51ValfsTer2
XM_005270750.1:c.149_150insTGTGT (GJA4)	XP_005270807.1:p.Asp51ValfsTer2
XR_947179.1:n.1001+4008_1001+4009insACACA
XM_005270750.2:c.149_150insTGTGT (GJA4)	XP_005270807.1:p.Asp51ValfsTer2
XM_017001043.2:c.149_150insTGTGT (GJA4)	XP_016856532.1:p.Asp51ValfsTer2
XR_001737967.1:n.1023+4008_1023+4009insACACA
NM_002060.3:c.149_150insTGTGT (GJA4) MANE Select	NP_002051.2:p.Asp51ValfsTer2