Canonical Allele Identifier: CA953430144

Gene: PUS1

Linked Data

• dbSNP Id: rs1891061450
• gnomAD v3: 12-131941448-GGCTCC-G
• gnomAD v4: 12-131941448-GGCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941449_131941453del , CM000674.2:g.131941449_131941453del	GRCh38
NC_000012.11:g.132425994_132425998del , CM000674.1:g.132425994_132425998del	GRCh37
NC_000012.10:g.130991947_130991951del	NCBI36
NG_013039.1:g.17250_17254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.702_706del MANE Select	ENSP00000365837.3:p.Arg234SerfsTer?
ENST00000322060.9:c.618_622del	ENSP00000324726.5:p.Arg206SerfsTer?
ENST00000376649.7:c.702_706del	ENSP00000365837.3:p.Arg234SerfsTer?
ENST00000443358.6:c.618_622del	ENSP00000392451.2:p.Arg206SerfsTer?
ENST00000535067.5:c.358-2090_358-2086del	ENSP00000443969.1:n.358-2090_358-2086del
ENST00000542167.2:c.543_547del	ENSP00000438948.1:p.Arg181SerfsTer?
ENST00000543754.1:n.523_527del
NM_001002019.2:c.618_622del	NP_001002019.1:p.Arg206SerfsTer?
NM_001002020.2:c.618_622del	NP_001002020.1:p.Arg206SerfsTer?
NM_025215.5:c.702_706del	NP_079491.2:p.Arg234SerfsTer?
XM_011538768.1:c.303_307del	XP_011537070.1:p.Arg101SerfsTer?
XM_011538768.3:c.303_307del	XP_011537070.1:p.Arg101SerfsTer?
XR_001748872.1:n.1157_1161del
NM_001002019.3:c.618_622del	NP_001002019.1:p.Arg206SerfsTer?
NM_001002020.3:c.618_622del	NP_001002020.1:p.Arg206SerfsTer?
NM_025215.6:c.702_706del MANE Select	NP_079491.2:p.Arg234SerfsTer?