Canonical Allele Identifier: CA2574212265

Gene: UBIAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273741_11273742del , CM000663.2:g.11273741_11273742del	GRCh38
NC_000001.10:g.11333798_11333799del , CM000663.1:g.11333798_11333799del	GRCh37
NC_000001.9:g.11256385_11256386del	NCBI36
NG_009443.1:g.5544_5545del
NG_009443.2:g.5544_5545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.210_211del MANE Select	ENSP00000366006.5:p.Leu71CysfsTer28
ENST00000376804.2:c.210_211del	ENSP00000366000.1:p.Leu71CysfsTer28
ENST00000376810.5:c.210_211del	ENSP00000366006.5:p.Leu71CysfsTer28
NM_013319.2:c.210_211del	NP_037451.1:p.Leu71CysfsTer28
XM_006710590.2:c.210_211del	XP_006710653.1:p.Leu71CysfsTer28
XM_011541304.1:c.210_211del	XP_011539606.1:p.Leu71CysfsTer28
XR_946616.1:n.544_545del
NM_001330349.1:c.210_211del	NP_001317278.1:p.Leu71CysfsTer28
NM_001330350.1:c.210_211del	NP_001317279.1:p.Leu71CysfsTer28
XR_946616.3:n.544_545del
NM_001330349.2:c.210_211del	NP_001317278.1:p.Leu71CysfsTer28
NM_001330350.2:c.210_211del	NP_001317279.1:p.Leu71CysfsTer28
NM_013319.3:c.210_211del MANE Select	NP_037451.1:p.Leu71CysfsTer28