Canonical Allele Identifier: CA1153587613
Gene: UBIAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273953_11273954delinsTG , CM000663.2:g.11273953_11273954delinsTG GRCh38
NC_000001.10:g.11334010_11334011delinsTG , CM000663.1:g.11334010_11334011delinsTG GRCh37
NC_000001.9:g.11256597_11256598delinsTG NCBI36
NG_009443.1:g.5756_5757delinsTG
NG_009443.2:g.5756_5757delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.422_423delinsTG MANE Select ENSP00000366006.5:p.Leu141=
ENST00000376804.2:c.422_423delinsTG ENSP00000366000.1:p.Leu141=
ENST00000376810.5:c.422_423delinsTG ENSP00000366006.5:p.Leu141=
ENST00000483738.1:c.20_21delinsTG ENSP00000473453.1:p.Leu7=
ENST00000486588.6:c.65_66delinsTG ENSP00000473612.1:p.Leu22=
NM_013319.2:c.422_423delinsTG NP_037451.1:p.Leu141=
XM_006710590.2:c.422_423delinsTG XP_006710653.1:p.Leu141=
XM_011541304.1:c.422_423delinsTG XP_011539606.1:p.Leu141=
XR_946616.1:n.756_757delinsTG
NM_001330349.1:c.422_423delinsTG NP_001317278.1:p.Leu141=
NM_001330350.1:c.422_423delinsTG NP_001317279.1:p.Leu141=
XR_946616.3:n.756_757delinsTG
NM_001330349.2:c.422_423delinsTG NP_001317278.1:p.Leu141=
NM_001330350.2:c.422_423delinsTG NP_001317279.1:p.Leu141=
NM_013319.3:c.422_423delinsTG MANE Select NP_037451.1:p.Leu141=