Canonical Allele Identifier: CA2643253116

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273754-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273756_11273757del , CM000663.2:g.11273756_11273757del	GRCh38
NC_000001.10:g.11333813_11333814del , CM000663.1:g.11333813_11333814del	GRCh37
NC_000001.9:g.11256400_11256401del	NCBI36
NG_009443.1:g.5559_5560del
NG_009443.2:g.5559_5560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.225_226del MANE Select	ENSP00000366006.5:p.His76ArgfsTer23
ENST00000376804.2:c.225_226del	ENSP00000366000.1:p.His76ArgfsTer23
ENST00000376810.5:c.225_226del	ENSP00000366006.5:p.His76ArgfsTer23
NM_013319.2:c.225_226del	NP_037451.1:p.His76ArgfsTer23
XM_006710590.2:c.225_226del	XP_006710653.1:p.His76ArgfsTer23
XM_011541304.1:c.225_226del	XP_011539606.1:p.His76ArgfsTer23
XR_946616.1:n.559_560del
NM_001330349.1:c.225_226del	NP_001317278.1:p.His76ArgfsTer23
NM_001330350.1:c.225_226del	NP_001317279.1:p.His76ArgfsTer23
XR_946616.3:n.559_560del
NM_001330349.2:c.225_226del	NP_001317278.1:p.His76ArgfsTer23
NM_001330350.2:c.225_226del	NP_001317279.1:p.His76ArgfsTer23
NM_013319.3:c.225_226del MANE Select	NP_037451.1:p.His76ArgfsTer23