Canonical Allele Identifier: CA521464648

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1324832000
• gnomAD v2: 1-11333906-CTT-C
• gnomAD v4: 1-11273849-CTT-C
• MyVariant Identifiers: chr1:g.11333907_11333908del (hg19) ; chr1:g.11273850_11273851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273852_11273853del , CM000663.2:g.11273852_11273853del	GRCh38
NC_000001.10:g.11333909_11333910del , CM000663.1:g.11333909_11333910del	GRCh37
NC_000001.9:g.11256496_11256497del	NCBI36
NG_009443.1:g.5655_5656del
NG_009443.2:g.5655_5656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.321_322del MANE Select	ENSP00000366006.5:p.Ser108GlnfsTer4
ENST00000376804.2:c.321_322del	ENSP00000366000.1:p.Ser108GlnfsTer4
ENST00000376810.5:c.321_322del	ENSP00000366006.5:p.Ser108GlnfsTer4
NM_013319.2:c.321_322del	NP_037451.1:p.Ser108GlnfsTer4
XM_006710590.2:c.321_322del	XP_006710653.1:p.Ser108GlnfsTer4
XM_011541304.1:c.321_322del	XP_011539606.1:p.Ser108GlnfsTer4
XR_946616.1:n.655_656del
NM_001330349.1:c.321_322del	NP_001317278.1:p.Ser108GlnfsTer4
NM_001330350.1:c.321_322del	NP_001317279.1:p.Ser108GlnfsTer4
XR_946616.3:n.655_656del
NM_001330349.2:c.321_322del	NP_001317278.1:p.Ser108GlnfsTer4
NM_001330350.2:c.321_322del	NP_001317279.1:p.Ser108GlnfsTer4
NM_013319.3:c.321_322del MANE Select	NP_037451.1:p.Ser108GlnfsTer4