Canonical Allele Identifier: CA2580085970

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2129213
• ClinVar RCV Id: RCV003040428

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941537del , CM000674.2:g.131941537del	GRCh38
NC_000012.11:g.132426082del , CM000674.1:g.132426082del	GRCh37
NC_000012.10:g.130992035del	NCBI36
NG_013039.1:g.17338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.790del MANE Select	ENSP00000365837.3:p.Leu264TrpfsTer18
ENST00000322060.9:c.706del	ENSP00000324726.5:p.Leu236TrpfsTer18
ENST00000376649.7:c.790del	ENSP00000365837.3:p.Leu264TrpfsTer18
ENST00000443358.6:c.706del	ENSP00000392451.2:p.Leu236TrpfsTer18
ENST00000535067.5:c.358-2002del	ENSP00000443969.1:n.358-2002del
ENST00000542167.2:c.631del	ENSP00000438948.1:p.Leu211TrpfsTer18
ENST00000543754.1:n.611del
NM_001002019.2:c.706del	NP_001002019.1:p.Leu236TrpfsTer18
NM_001002020.2:c.706del	NP_001002020.1:p.Leu236TrpfsTer18
NM_025215.5:c.790del	NP_079491.2:p.Leu264TrpfsTer18
XM_011538768.1:c.391del	XP_011537070.1:p.Leu131TrpfsTer18
XM_011538768.3:c.391del	XP_011537070.1:p.Leu131TrpfsTer18
XR_001748872.1:n.1245del
NM_001002019.3:c.706del	NP_001002019.1:p.Leu236TrpfsTer18
NM_001002020.3:c.706del	NP_001002020.1:p.Leu236TrpfsTer18
NM_025215.6:c.790del MANE Select	NP_079491.2:p.Leu264TrpfsTer18