Canonical Allele Identifier: CA521464646

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1240738493
• gnomAD v2: 1-11333844-G-GTC
• MyVariant Identifiers: chr1:g.11333844_11333845insTC (hg19) ; chr1:g.11273787_11273788insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273787_11273788insTC , CM000663.2:g.11273787_11273788insTC	GRCh38
NC_000001.10:g.11333844_11333845insTC , CM000663.1:g.11333844_11333845insTC	GRCh37
NC_000001.9:g.11256431_11256432insTC	NCBI36
NG_009443.1:g.5590_5591insTC
NG_009443.2:g.5590_5591insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.256_257insTC MANE Select	ENSP00000366006.5:p.Gly86ValfsTer?
ENST00000376804.2:c.256_257insTC	ENSP00000366000.1:p.Gly86ValfsTer?
ENST00000376810.5:c.256_257insTC	ENSP00000366006.5:p.Gly86ValfsTer?
NM_013319.2:c.256_257insTC	NP_037451.1:p.Gly86ValfsTer?
XM_006710590.2:c.256_257insTC	XP_006710653.1:p.Gly86ValfsTer?
XM_011541304.1:c.256_257insTC	XP_011539606.1:p.Gly86ValfsTer?
XR_946616.1:n.590_591insTC
NM_001330349.1:c.256_257insTC	NP_001317278.1:p.Gly86ValfsTer?
NM_001330350.1:c.256_257insTC	NP_001317279.1:p.Gly86ValfsTer?
XR_946616.3:n.590_591insTC
NM_001330349.2:c.256_257insTC	NP_001317278.1:p.Gly86ValfsTer?
NM_001330350.2:c.256_257insTC	NP_001317279.1:p.Gly86ValfsTer?
NM_013319.3:c.256_257insTC MANE Select	NP_037451.1:p.Gly86ValfsTer?