Canonical Allele Identifier: CA1153580482

Gene: UBIAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11287447_11287450delinsGACT , CM000663.2:g.11287447_11287450delinsGACT	GRCh38
NC_000001.10:g.11347504_11347507delinsGACT , CM000663.1:g.11347504_11347507delinsGACT	GRCh37
NC_000001.9:g.11270091_11270094delinsGACT	NCBI36
NG_009443.1:g.19250_19253delinsGACT
NG_009443.2:g.19250_19253delinsGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.*1316_*1319delinsGACT MANE Select	ENSP00000366006.5:n.*1316_*1319delinsGACT
ENST00000376804.2:c.530-7426_530-7423delinsGACT	ENSP00000366000.1:n.530-7426_530-7423delinsGACT
ENST00000376810.5:c.*1316_*1319delinsGACT	ENSP00000366006.5:n.*1316_*1319delinsGACT
ENST00000483738.1:c.216+1715_216+1718delinsGACT	ENSP00000473453.1:n.216+1715_216+1718delinsGACT
ENST00000486588.6:c.261+1715_261+1718delinsGACT	ENSP00000473612.1:n.261+1715_261+1718delinsGACT
NM_013319.2:c.*1316_*1319delinsGACT	NP_037451.1:n.*1316_*1319delinsGACT
XM_006710590.2:c.618+1715_618+1718delinsGACT	XP_006710653.1:n.618+1715_618+1718delinsGACT
XM_011541304.1:c.530-7426_530-7423delinsGACT	XP_011539606.1:n.530-7426_530-7423delinsGACT
XR_946616.1:n.952+1715_952+1718delinsGACT
NM_001330349.1:c.618+1715_618+1718delinsGACT	NP_001317278.1:n.618+1715_618+1718delinsGACT
NM_001330350.1:c.530-7426_530-7423delinsGACT	NP_001317279.1:n.530-7426_530-7423delinsGACT
XR_946616.3:n.952+1715_952+1718delinsGACT
NM_001330349.2:c.618+1715_618+1718delinsGACT	NP_001317278.1:n.618+1715_618+1718delinsGACT
NM_001330350.2:c.530-7426_530-7423delinsGACT	NP_001317279.1:n.530-7426_530-7423delinsGACT
NM_013319.3:c.*1316_*1319delinsGACT MANE Select	NP_037451.1:n.*1316_*1319delinsGACT