Canonical Allele Identifier: CA591141

Gene: UBIAD1

Linked Data

• dbSNP Id: rs763663167
• ExAC: 1:11334010 TG / T
• gnomAD v2: 1-11334010-TG-T
• gnomAD v4: 1-11273953-TG-T
• MyVariant Identifiers: chr1:g.11334011del (hg19) ; chr1:g.11273954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273956del , CM000663.2:g.11273956del	GRCh38
NC_000001.10:g.11334013del , CM000663.1:g.11334013del	GRCh37
NC_000001.9:g.11256600del	NCBI36
NG_009443.1:g.5759del
NG_009443.2:g.5759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.425del MANE Select	ENSP00000366006.5:p.Gly142AlafsTer14
ENST00000376804.2:c.425del	ENSP00000366000.1:p.Gly142AlafsTer14
ENST00000376810.5:c.425del	ENSP00000366006.5:p.Gly142AlafsTer14
ENST00000483738.1:c.23del	ENSP00000473453.1:p.Gly8AlafsTer14
ENST00000486588.6:c.68del	ENSP00000473612.1:p.Gly23AlafsTer14
NM_013319.2:c.425del	NP_037451.1:p.Gly142AlafsTer14
XM_006710590.2:c.425del	XP_006710653.1:p.Gly142AlafsTer14
XM_011541304.1:c.425del	XP_011539606.1:p.Gly142AlafsTer14
XR_946616.1:n.759del
NM_001330349.1:c.425del	NP_001317278.1:p.Gly142AlafsTer14
NM_001330350.1:c.425del	NP_001317279.1:p.Gly142AlafsTer14
XR_946616.3:n.759del
NM_001330349.2:c.425del	NP_001317278.1:p.Gly142AlafsTer14
NM_001330350.2:c.425del	NP_001317279.1:p.Gly142AlafsTer14
NM_013319.3:c.425del MANE Select	NP_037451.1:p.Gly142AlafsTer14