Canonical Allele Identifier: CA1153587479

Gene: UBIAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273863_11273870delinsTTGACCAC , CM000663.2:g.11273863_11273870delinsTTGACCAC	GRCh38
NC_000001.10:g.11333920_11333927delinsTTGACCAC , CM000663.1:g.11333920_11333927delinsTTGACCAC	GRCh37
NC_000001.9:g.11256507_11256514delinsTTGACCAC	NCBI36
NG_009443.1:g.5666_5673delinsTTGACCAC
NG_009443.2:g.5666_5673delinsTTGACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.332_339delinsTTGACCAC MANE Select	ENSP00000366006.5:p.Ile111=
ENST00000376804.2:c.332_339delinsTTGACCAC	ENSP00000366000.1:p.Ile111=
ENST00000376810.5:c.332_339delinsTTGACCAC	ENSP00000366006.5:p.Ile111=
NM_013319.2:c.332_339delinsTTGACCAC	NP_037451.1:p.Ile111=
XM_006710590.2:c.332_339delinsTTGACCAC	XP_006710653.1:p.Ile111=
XM_011541304.1:c.332_339delinsTTGACCAC	XP_011539606.1:p.Ile111=
XR_946616.1:n.666_673delinsTTGACCAC
NM_001330349.1:c.332_339delinsTTGACCAC	NP_001317278.1:p.Ile111=
NM_001330350.1:c.332_339delinsTTGACCAC	NP_001317279.1:p.Ile111=
XR_946616.3:n.666_673delinsTTGACCAC
NM_001330349.2:c.332_339delinsTTGACCAC	NP_001317278.1:p.Ile111=
NM_001330350.2:c.332_339delinsTTGACCAC	NP_001317279.1:p.Ile111=
NM_013319.3:c.332_339delinsTTGACCAC MANE Select	NP_037451.1:p.Ile111=