Canonical Allele Identifier: CA885580894

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1318246270
• gnomAD v3: 1-11273737-GTGCCCT-G
• gnomAD v4: 1-11273737-GTGCCCT-G
• MyVariant Identifiers: chr1:g.11333795_11333800del (hg19) ; chr1:g.11273738_11273743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273742_11273747del , CM000663.2:g.11273742_11273747del	GRCh38
NC_000001.10:g.11333799_11333804del , CM000663.1:g.11333799_11333804del	GRCh37
NC_000001.9:g.11256386_11256391del	NCBI36
NG_009443.1:g.5545_5550del
NG_009443.2:g.5545_5550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.211_216del MANE Select	ENSP00000366006.5:p.Leu71_Ala72del
ENST00000376804.2:c.211_216del	ENSP00000366000.1:p.Leu71_Ala72del
ENST00000376810.5:c.211_216del	ENSP00000366006.5:p.Leu71_Ala72del
NM_013319.2:c.211_216del	NP_037451.1:p.Leu71_Ala72del
XM_006710590.2:c.211_216del	XP_006710653.1:p.Leu71_Ala72del
XM_011541304.1:c.211_216del	XP_011539606.1:p.Leu71_Ala72del
XR_946616.1:n.545_550del
NM_001330349.1:c.211_216del	NP_001317278.1:p.Leu71_Ala72del
NM_001330350.1:c.211_216del	NP_001317279.1:p.Leu71_Ala72del
XR_946616.3:n.545_550del
NM_001330349.2:c.211_216del	NP_001317278.1:p.Leu71_Ala72del
NM_001330350.2:c.211_216del	NP_001317279.1:p.Leu71_Ala72del
NM_013319.3:c.211_216del MANE Select	NP_037451.1:p.Leu71_Ala72del