Canonical Allele Identifier: CA2643253114

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273734-G-GCTGGTCTCAAACTCCTGACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273735_11273736insTGGTCTCAAACTCCTGACCTC , CM000663.2:g.11273735_11273736insTGGTCTCAAACTCCTGACCTC	GRCh38
NC_000001.10:g.11333792_11333793insTGGTCTCAAACTCCTGACCTC , CM000663.1:g.11333792_11333793insTGGTCTCAAACTCCTGACCTC	GRCh37
NC_000001.9:g.11256379_11256380insTGGTCTCAAACTCCTGACCTC	NCBI36
NG_009443.1:g.5538_5539insTGGTCTCAAACTCCTGACCTC
NG_009443.2:g.5538_5539insTGGTCTCAAACTCCTGACCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.204_205insTGGTCTCAAACTCCTGACCTC MANE Select	ENSP00000366006.5:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
ENST00000376804.2:c.204_205insTGGTCTCAAACTCCTGACCTC	ENSP00000366000.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
ENST00000376810.5:c.204_205insTGGTCTCAAACTCCTGACCTC	ENSP00000366006.5:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
NM_013319.2:c.204_205insTGGTCTCAAACTCCTGACCTC	NP_037451.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
XM_006710590.2:c.204_205insTGGTCTCAAACTCCTGACCTC	XP_006710653.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
XM_011541304.1:c.204_205insTGGTCTCAAACTCCTGACCTC	XP_011539606.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
XR_946616.1:n.538_539insTGGTCTCAAACTCCTGACCTC
NM_001330349.1:c.204_205insTGGTCTCAAACTCCTGACCTC	NP_001317278.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
NM_001330350.1:c.204_205insTGGTCTCAAACTCCTGACCTC	NP_001317279.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
XR_946616.3:n.538_539insTGGTCTCAAACTCCTGACCTC
NM_001330349.2:c.204_205insTGGTCTCAAACTCCTGACCTC	NP_001317278.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
NM_001330350.2:c.204_205insTGGTCTCAAACTCCTGACCTC	NP_001317279.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu
NM_013319.3:c.204_205insTGGTCTCAAACTCCTGACCTC MANE Select	NP_037451.1:p.Gly68_Ser69insTrpSerGlnThrProAspLeu