Canonical Allele Identifier: CA2643253118

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273781-TTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273785_11273787del , CM000663.2:g.11273785_11273787del	GRCh38
NC_000001.10:g.11333842_11333844del , CM000663.1:g.11333842_11333844del	GRCh37
NC_000001.9:g.11256429_11256431del	NCBI36
NG_009443.1:g.5588_5590del
NG_009443.2:g.5588_5590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.254_256del MANE Select	ENSP00000366006.5:p.Val85del
ENST00000376804.2:c.254_256del	ENSP00000366000.1:p.Val85del
ENST00000376810.5:c.254_256del	ENSP00000366006.5:p.Val85del
NM_013319.2:c.254_256del	NP_037451.1:p.Val85del
XM_006710590.2:c.254_256del	XP_006710653.1:p.Val85del
XM_011541304.1:c.254_256del	XP_011539606.1:p.Val85del
XR_946616.1:n.588_590del
NM_001330349.1:c.254_256del	NP_001317278.1:p.Val85del
NM_001330350.1:c.254_256del	NP_001317279.1:p.Val85del
XR_946616.3:n.588_590del
NM_001330349.2:c.254_256del	NP_001317278.1:p.Val85del
NM_001330350.2:c.254_256del	NP_001317279.1:p.Val85del
NM_013319.3:c.254_256del MANE Select	NP_037451.1:p.Val85del