Canonical Allele Identifier: CA2697551562

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2770739
• ClinVar RCV Id: RCV003580830

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941454dup , CM000674.2:g.131941454dup	GRCh38
NC_000012.11:g.132425999dup , CM000674.1:g.132425999dup	GRCh37
NC_000012.10:g.130991952dup	NCBI36
NG_013039.1:g.17255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.707dup MANE Select	ENSP00000365837.3:p.Ala237GlyfsTer?
ENST00000322060.9:c.623dup	ENSP00000324726.5:p.Ala209GlyfsTer?
ENST00000376649.7:c.707dup	ENSP00000365837.3:p.Ala237GlyfsTer?
ENST00000443358.6:c.623dup	ENSP00000392451.2:p.Ala209GlyfsTer?
ENST00000535067.5:c.358-2085dup	ENSP00000443969.1:n.358-2085dup
ENST00000542167.2:c.548dup	ENSP00000438948.1:p.Ala184GlyfsTer?
ENST00000543754.1:n.528dup
NM_001002019.2:c.623dup	NP_001002019.1:p.Ala209GlyfsTer?
NM_001002020.2:c.623dup	NP_001002020.1:p.Ala209GlyfsTer?
NM_025215.5:c.707dup	NP_079491.2:p.Ala237GlyfsTer?
XM_011538768.1:c.308dup	XP_011537070.1:p.Ala104GlyfsTer?
XM_011538768.3:c.308dup	XP_011537070.1:p.Ala104GlyfsTer?
XR_001748872.1:n.1162dup
NM_001002019.3:c.623dup	NP_001002019.1:p.Ala209GlyfsTer?
NM_001002020.3:c.623dup	NP_001002020.1:p.Ala209GlyfsTer?
NM_025215.6:c.707dup MANE Select	NP_079491.2:p.Ala237GlyfsTer?