Canonical Allele Identifier: CA2574212266

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273874-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273877_11273878del , CM000663.2:g.11273877_11273878del	GRCh38
NC_000001.10:g.11333934_11333935del , CM000663.1:g.11333934_11333935del	GRCh37
NC_000001.9:g.11256521_11256522del	NCBI36
NG_009443.1:g.5680_5681del
NG_009443.2:g.5680_5681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.346_347del MANE Select	ENSP00000366006.5:p.Ser116Ter
ENST00000376804.2:c.346_347del	ENSP00000366000.1:p.Ser116Ter
ENST00000376810.5:c.346_347del	ENSP00000366006.5:p.Ser116Ter
NM_013319.2:c.346_347del	NP_037451.1:p.Ser116Ter
XM_006710590.2:c.346_347del	XP_006710653.1:p.Ser116Ter
XM_011541304.1:c.346_347del	XP_011539606.1:p.Ser116Ter
XR_946616.1:n.680_681del
NM_001330349.1:c.346_347del	NP_001317278.1:p.Ser116Ter
NM_001330350.1:c.346_347del	NP_001317279.1:p.Ser116Ter
XR_946616.3:n.680_681del
NM_001330349.2:c.346_347del	NP_001317278.1:p.Ser116Ter
NM_001330350.2:c.346_347del	NP_001317279.1:p.Ser116Ter
NM_013319.3:c.346_347del MANE Select	NP_037451.1:p.Ser116Ter