Canonical Allele Identifier: CA2643253164

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273870-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273874_11273875del , CM000663.2:g.11273874_11273875del	GRCh38
NC_000001.10:g.11333931_11333932del , CM000663.1:g.11333931_11333932del	GRCh37
NC_000001.9:g.11256518_11256519del	NCBI36
NG_009443.1:g.5677_5678del
NG_009443.2:g.5677_5678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.343_344del MANE Select	ENSP00000366006.5:p.Lys115GlufsTer2
ENST00000376804.2:c.343_344del	ENSP00000366000.1:p.Lys115GlufsTer2
ENST00000376810.5:c.343_344del	ENSP00000366006.5:p.Lys115GlufsTer2
NM_013319.2:c.343_344del	NP_037451.1:p.Lys115GlufsTer2
XM_006710590.2:c.343_344del	XP_006710653.1:p.Lys115GlufsTer2
XM_011541304.1:c.343_344del	XP_011539606.1:p.Lys115GlufsTer2
XR_946616.1:n.677_678del
NM_001330349.1:c.343_344del	NP_001317278.1:p.Lys115GlufsTer2
NM_001330350.1:c.343_344del	NP_001317279.1:p.Lys115GlufsTer2
XR_946616.3:n.677_678del
NM_001330349.2:c.343_344del	NP_001317278.1:p.Lys115GlufsTer2
NM_001330350.2:c.343_344del	NP_001317279.1:p.Lys115GlufsTer2
NM_013319.3:c.343_344del MANE Select	NP_037451.1:p.Lys115GlufsTer2