Canonical Allele Identifier: CA2743144319

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794435_34794436insCCAAACCAAACACACCCAACAC , CM000663.2:g.34794435_34794436insCCAAACCAAACACACCCAACAC	GRCh38
NC_000001.10:g.35260036_35260037insCCAAACCAAACACACCCAACAC , CM000663.1:g.35260036_35260037insCCAAACCAAACACACCCAACAC	GRCh37
NC_000001.9:g.35032623_35032624insCCAAACCAAACACACCCAACAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.222_223insCCAAACCAAACACACCCAACAC (GJA4) MANE Select	ENSP00000343676.4:p.Ile75ProfsTer?
ENST00000342280.4:c.222_223insCCAAACCAAACACACCCAACAC (GJA4)	ENSP00000343676.4:p.Ile75ProfsTer?
ENST00000426886.1:c.207+61338_207+61339insTTGGGTGTGTTTGGTTTGGGTG (SMIM12)	ENSP00000429902.1:n.207+61338_207+61339insTTGGGTGTGTTTGGTTTGG...
ENST00000450137.1:c.222_223insCCAAACCAAACACACCCAACAC (GJA4)	ENSP00000409186.1:p.Ile75ProfsTer?
NM_002060.2:c.222_223insCCAAACCAAACACACCCAACAC (GJA4)	NP_002051.2:p.Ile75ProfsTer?
XM_005270750.1:c.222_223insCCAAACCAAACACACCCAACAC (GJA4)	XP_005270807.1:p.Ile75ProfsTer?
XR_947179.1:n.1001+3938_1001+3939insTTGGGTGTGTTTGGTTTGGGTG
XM_005270750.2:c.222_223insCCAAACCAAACACACCCAACAC (GJA4)	XP_005270807.1:p.Ile75ProfsTer?
XM_017001043.2:c.222_223insCCAAACCAAACACACCCAACAC (GJA4)	XP_016856532.1:p.Ile75ProfsTer?
XR_001737967.1:n.1023+3938_1023+3939insTTGGGTGTGTTTGGTTTGGGTG
NM_002060.3:c.222_223insCCAAACCAAACACACCCAACAC (GJA4) MANE Select	NP_002051.2:p.Ile75ProfsTer?