Canonical Allele Identifier: CA6884214

Gene: PUS1

Linked Data

• dbSNP Id: rs765611487
• ExAC: 12:132425957 AC / A
• gnomAD v2: 12-132425957-AC-A
• gnomAD v4: 12-131941412-AC-A
• MyVariant Identifiers: chr12:g.132425958del (hg19) ; chr12:g.131941413del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941414del , CM000674.2:g.131941414del	GRCh38
NC_000012.11:g.132425959del , CM000674.1:g.132425959del	GRCh37
NC_000012.10:g.130991912del	NCBI36
NG_013039.1:g.17215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.667del MANE Select	ENSP00000365837.3:p.Arg223AlafsTer2
ENST00000322060.9:c.583del	ENSP00000324726.5:p.Arg195AlafsTer2
ENST00000376649.7:c.667del	ENSP00000365837.3:p.Arg223AlafsTer2
ENST00000443358.6:c.583del	ENSP00000392451.2:p.Arg195AlafsTer2
ENST00000535067.5:c.358-2125del	ENSP00000443969.1:n.358-2125del
ENST00000537484.1:c.592del	ENSP00000440179.1:p.Arg198AlafsTer2
ENST00000542167.2:c.508del	ENSP00000438948.1:p.Arg170AlafsTer2
ENST00000543754.1:n.488del
NM_001002019.2:c.583del	NP_001002019.1:p.Arg195AlafsTer2
NM_001002020.2:c.583del	NP_001002020.1:p.Arg195AlafsTer2
NM_025215.5:c.667del	NP_079491.2:p.Arg223AlafsTer2
XM_011538768.1:c.268del	XP_011537070.1:p.Arg90AlafsTer2
XM_011538768.3:c.268del	XP_011537070.1:p.Arg90AlafsTer2
XR_001748872.1:n.1122del
NM_001002019.3:c.583del	NP_001002019.1:p.Arg195AlafsTer2
NM_001002020.3:c.583del	NP_001002020.1:p.Arg195AlafsTer2
NM_025215.6:c.667del MANE Select	NP_079491.2:p.Arg223AlafsTer2