Canonical Allele Identifier: CA998592147

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1651885426
• gnomAD v3: 1-11273863-TTGACCAC-T
• gnomAD v4: 1-11273863-TTGACCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273864_11273870del , CM000663.2:g.11273864_11273870del	GRCh38
NC_000001.10:g.11333921_11333927del , CM000663.1:g.11333921_11333927del	GRCh37
NC_000001.9:g.11256508_11256514del	NCBI36
NG_009443.1:g.5667_5673del
NG_009443.2:g.5667_5673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.333_339del MANE Select	ENSP00000366006.5:p.Asp112LysfsTer?
ENST00000376804.2:c.333_339del	ENSP00000366000.1:p.Asp112LysfsTer?
ENST00000376810.5:c.333_339del	ENSP00000366006.5:p.Asp112LysfsTer?
NM_013319.2:c.333_339del	NP_037451.1:p.Asp112LysfsTer?
XM_006710590.2:c.333_339del	XP_006710653.1:p.Asp112LysfsTer?
XM_011541304.1:c.333_339del	XP_011539606.1:p.Asp112LysfsTer?
XR_946616.1:n.667_673del
NM_001330349.1:c.333_339del	NP_001317278.1:p.Asp112LysfsTer?
NM_001330350.1:c.333_339del	NP_001317279.1:p.Asp112LysfsTer?
XR_946616.3:n.667_673del
NM_001330349.2:c.333_339del	NP_001317278.1:p.Asp112LysfsTer?
NM_001330350.2:c.333_339del	NP_001317279.1:p.Asp112LysfsTer?
NM_013319.3:c.333_339del MANE Select	NP_037451.1:p.Asp112LysfsTer?