Canonical Allele Identifier: CA591163

Gene: UBIAD1

Linked Data

• dbSNP Id: rs751013806
• ExAC: 1:11334108 TAC / T
• gnomAD v2: 1-11334108-TAC-T
• gnomAD v4: 1-11274051-TAC-T
• MyVariant Identifiers: chr1:g.11334109_11334110del (hg19) ; chr1:g.11274052_11274053del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274055_11274056del , CM000663.2:g.11274055_11274056del	GRCh38
NC_000001.10:g.11334112_11334113del , CM000663.1:g.11334112_11334113del	GRCh37
NC_000001.9:g.11256699_11256700del	NCBI36
NG_009443.1:g.5858_5859del
NG_009443.2:g.5858_5859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.524_525del MANE Select	ENSP00000366006.5:p.Thr175ArgfsTer?
ENST00000376804.2:c.524_525del	ENSP00000366000.1:p.Thr175ArgfsTer26
ENST00000376810.5:c.524_525del	ENSP00000366006.5:p.Thr175ArgfsTer?
ENST00000483738.1:c.122_123del	ENSP00000473453.1:p.Thr41ArgfsTer?
ENST00000486588.6:c.167_168del	ENSP00000473612.1:p.Thr56ArgfsTer?
NM_013319.2:c.524_525del	NP_037451.1:p.Thr175ArgfsTer?
XM_006710590.2:c.524_525del	XP_006710653.1:p.Thr175ArgfsTer?
XM_011541304.1:c.524_525del	XP_011539606.1:p.Thr175ArgfsTer26
XR_946616.1:n.858_859del
NM_001330349.1:c.524_525del	NP_001317278.1:p.Thr175ArgfsTer?
NM_001330350.1:c.524_525del	NP_001317279.1:p.Thr175ArgfsTer26
XR_946616.3:n.858_859del
NM_001330349.2:c.524_525del	NP_001317278.1:p.Thr175ArgfsTer?
NM_001330350.2:c.524_525del	NP_001317279.1:p.Thr175ArgfsTer26
NM_013319.3:c.524_525del MANE Select	NP_037451.1:p.Thr175ArgfsTer?