Canonical Allele Identifier: CA2643253113

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273727-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273727_11273728insT , CM000663.2:g.11273727_11273728insT	GRCh38
NC_000001.10:g.11333784_11333785insT , CM000663.1:g.11333784_11333785insT	GRCh37
NC_000001.9:g.11256371_11256372insT	NCBI36
NG_009443.1:g.5530_5531insT
NG_009443.2:g.5530_5531insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.196_197insT MANE Select	ENSP00000366006.5:p.Ala66ValfsTer?
ENST00000376804.2:c.196_197insT	ENSP00000366000.1:p.Ala66ValfsTer?
ENST00000376810.5:c.196_197insT	ENSP00000366006.5:p.Ala66ValfsTer?
NM_013319.2:c.196_197insT	NP_037451.1:p.Ala66ValfsTer?
XM_006710590.2:c.196_197insT	XP_006710653.1:p.Ala66ValfsTer?
XM_011541304.1:c.196_197insT	XP_011539606.1:p.Ala66ValfsTer?
XR_946616.1:n.530_531insT
NM_001330349.1:c.196_197insT	NP_001317278.1:p.Ala66ValfsTer?
NM_001330350.1:c.196_197insT	NP_001317279.1:p.Ala66ValfsTer?
XR_946616.3:n.530_531insT
NM_001330349.2:c.196_197insT	NP_001317278.1:p.Ala66ValfsTer?
NM_001330350.2:c.196_197insT	NP_001317279.1:p.Ala66ValfsTer?
NM_013319.3:c.196_197insT MANE Select	NP_037451.1:p.Ala66ValfsTer?