Canonical Allele Identifier: CA1153587532

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1651887622

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273921_11273936dup , CM000663.2:g.11273921_11273936dup	GRCh38
NC_000001.10:g.11333978_11333993dup , CM000663.1:g.11333978_11333993dup	GRCh37
NC_000001.9:g.11256565_11256580dup	NCBI36
NG_009443.1:g.5724_5739dup
NG_009443.2:g.5724_5739dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.390_405dup MANE Select	ENSP00000366006.5:p.Val136CysfsTer?
ENST00000376804.2:c.390_405dup	ENSP00000366000.1:p.Val136CysfsTer?
ENST00000376810.5:c.390_405dup	ENSP00000366006.5:p.Val136CysfsTer?
ENST00000486588.6:c.33_48dup	ENSP00000473612.1:p.Val17CysfsTer?
NM_013319.2:c.390_405dup	NP_037451.1:p.Val136CysfsTer?
XM_006710590.2:c.390_405dup	XP_006710653.1:p.Val136CysfsTer?
XM_011541304.1:c.390_405dup	XP_011539606.1:p.Val136CysfsTer?
XR_946616.1:n.724_739dup
NM_001330349.1:c.390_405dup	NP_001317278.1:p.Val136CysfsTer?
NM_001330350.1:c.390_405dup	NP_001317279.1:p.Val136CysfsTer?
XR_946616.3:n.724_739dup
NM_001330349.2:c.390_405dup	NP_001317278.1:p.Val136CysfsTer?
NM_001330350.2:c.390_405dup	NP_001317279.1:p.Val136CysfsTer?
NM_013319.3:c.390_405dup MANE Select	NP_037451.1:p.Val136CysfsTer?