Canonical Allele Identifier: CA521464647

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1486618927
• gnomAD v2: 1-11333845-G-GCCGTATCA
• MyVariant Identifiers: chr1:g.11333845_11333846insCCGTATCA (hg19) ; chr1:g.11273788_11273789insCCGTATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273788_11273789insCCGTATCA , CM000663.2:g.11273788_11273789insCCGTATCA	GRCh38
NC_000001.10:g.11333845_11333846insCCGTATCA , CM000663.1:g.11333845_11333846insCCGTATCA	GRCh37
NC_000001.9:g.11256432_11256433insCCGTATCA	NCBI36
NG_009443.1:g.5591_5592insCCGTATCA
NG_009443.2:g.5591_5592insCCGTATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.257_258insCCGTATCA MANE Select	ENSP00000366006.5:p.Cys87ArgfsTer?
ENST00000376804.2:c.257_258insCCGTATCA	ENSP00000366000.1:p.Cys87ArgfsTer?
ENST00000376810.5:c.257_258insCCGTATCA	ENSP00000366006.5:p.Cys87ArgfsTer?
NM_013319.2:c.257_258insCCGTATCA	NP_037451.1:p.Cys87ArgfsTer?
XM_006710590.2:c.257_258insCCGTATCA	XP_006710653.1:p.Cys87ArgfsTer?
XM_011541304.1:c.257_258insCCGTATCA	XP_011539606.1:p.Cys87ArgfsTer?
XR_946616.1:n.591_592insCCGTATCA
NM_001330349.1:c.257_258insCCGTATCA	NP_001317278.1:p.Cys87ArgfsTer?
NM_001330350.1:c.257_258insCCGTATCA	NP_001317279.1:p.Cys87ArgfsTer?
XR_946616.3:n.591_592insCCGTATCA
NM_001330349.2:c.257_258insCCGTATCA	NP_001317278.1:p.Cys87ArgfsTer?
NM_001330350.2:c.257_258insCCGTATCA	NP_001317279.1:p.Cys87ArgfsTer?
NM_013319.3:c.257_258insCCGTATCA MANE Select	NP_037451.1:p.Cys87ArgfsTer?