Canonical Allele Identifier: CA2644771203

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794361-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794361_34794362insA , CM000663.2:g.34794361_34794362insA	GRCh38
NC_000001.10:g.35259962_35259963insA , CM000663.1:g.35259962_35259963insA	GRCh37
NC_000001.9:g.35032549_35032550insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.148_149insA (GJA4) MANE Select	ENSP00000343676.4:p.Ser50TyrfsTer6
ENST00000342280.4:c.148_149insA (GJA4)	ENSP00000343676.4:p.Ser50TyrfsTer6
ENST00000426886.1:c.207+61409_207+61410insT (SMIM12)	ENSP00000429902.1:n.207+61409_207+61410insT
ENST00000450137.1:c.148_149insA (GJA4)	ENSP00000409186.1:p.Ser50TyrfsTer6
NM_002060.2:c.148_149insA (GJA4)	NP_002051.2:p.Ser50TyrfsTer6
XM_005270750.1:c.148_149insA (GJA4)	XP_005270807.1:p.Ser50TyrfsTer6
XR_947179.1:n.1001+4009_1001+4010insT
XM_005270750.2:c.148_149insA (GJA4)	XP_005270807.1:p.Ser50TyrfsTer6
XM_017001043.2:c.148_149insA (GJA4)	XP_016856532.1:p.Ser50TyrfsTer6
XR_001737967.1:n.1023+4009_1023+4010insT
NM_002060.3:c.148_149insA (GJA4) MANE Select	NP_002051.2:p.Ser50TyrfsTer6