Canonical Allele Identifier: CA1153587274

Gene: UBIAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273737_11273743delinsGTGCCCT , CM000663.2:g.11273737_11273743delinsGTGCCCT	GRCh38
NC_000001.10:g.11333794_11333800delinsGTGCCCT , CM000663.1:g.11333794_11333800delinsGTGCCCT	GRCh37
NC_000001.9:g.11256381_11256387delinsGTGCCCT	NCBI36
NG_009443.1:g.5540_5546delinsGTGCCCT
NG_009443.2:g.5540_5546delinsGTGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.206_212delinsGTGCCCT MANE Select	ENSP00000366006.5:p.Ser69=
ENST00000376804.2:c.206_212delinsGTGCCCT	ENSP00000366000.1:p.Ser69=
ENST00000376810.5:c.206_212delinsGTGCCCT	ENSP00000366006.5:p.Ser69=
NM_013319.2:c.206_212delinsGTGCCCT	NP_037451.1:p.Ser69=
XM_006710590.2:c.206_212delinsGTGCCCT	XP_006710653.1:p.Ser69=
XM_011541304.1:c.206_212delinsGTGCCCT	XP_011539606.1:p.Ser69=
XR_946616.1:n.540_546delinsGTGCCCT
NM_001330349.1:c.206_212delinsGTGCCCT	NP_001317278.1:p.Ser69=
NM_001330350.1:c.206_212delinsGTGCCCT	NP_001317279.1:p.Ser69=
XR_946616.3:n.540_546delinsGTGCCCT
NM_001330349.2:c.206_212delinsGTGCCCT	NP_001317278.1:p.Ser69=
NM_001330350.2:c.206_212delinsGTGCCCT	NP_001317279.1:p.Ser69=
NM_013319.3:c.206_212delinsGTGCCCT MANE Select	NP_037451.1:p.Ser69=