Canonical Allele Identifier: CA2643253360

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273966-TGCCGCTTGCCTCTACTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273967_11273983del , CM000663.2:g.11273967_11273983del	GRCh38
NC_000001.10:g.11334024_11334040del , CM000663.1:g.11334024_11334040del	GRCh37
NC_000001.9:g.11256611_11256627del	NCBI36
NG_009443.1:g.5770_5786del
NG_009443.2:g.5770_5786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.436_452del MANE Select	ENSP00000366006.5:p.Ala146ProfsTer?
ENST00000376804.2:c.436_452del	ENSP00000366000.1:p.Ala146ProfsTer?
ENST00000376810.5:c.436_452del	ENSP00000366006.5:p.Ala146ProfsTer?
ENST00000483738.1:c.34_50del	ENSP00000473453.1:p.Ala12ProfsTer?
ENST00000486588.6:c.79_95del	ENSP00000473612.1:p.Ala27ProfsTer?
NM_013319.2:c.436_452del	NP_037451.1:p.Ala146ProfsTer?
XM_006710590.2:c.436_452del	XP_006710653.1:p.Ala146ProfsTer?
XM_011541304.1:c.436_452del	XP_011539606.1:p.Ala146ProfsTer?
XR_946616.1:n.770_786del
NM_001330349.1:c.436_452del	NP_001317278.1:p.Ala146ProfsTer?
NM_001330350.1:c.436_452del	NP_001317279.1:p.Ala146ProfsTer?
XR_946616.3:n.770_786del
NM_001330349.2:c.436_452del	NP_001317278.1:p.Ala146ProfsTer?
NM_001330350.2:c.436_452del	NP_001317279.1:p.Ala146ProfsTer?
NM_013319.3:c.436_452del MANE Select	NP_037451.1:p.Ala146ProfsTer?