Canonical Allele Identifier: CA2697551565

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2762282
• ClinVar RCV Id: RCV003569994

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941328_131941332del , CM000674.2:g.131941328_131941332del	GRCh38
NC_000012.11:g.132425873_132425877del , CM000674.1:g.132425873_132425877del	GRCh37
NC_000012.10:g.130991826_130991830del	NCBI36
NG_013039.1:g.17129_17133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.581_585del MANE Select	ENSP00000365837.3:p.Asn194MetfsTer2
ENST00000322060.9:c.497_501del	ENSP00000324726.5:p.Asn166MetfsTer2
ENST00000376649.7:c.581_585del	ENSP00000365837.3:p.Asn194MetfsTer2
ENST00000443358.6:c.497_501del	ENSP00000392451.2:p.Asn166MetfsTer2
ENST00000535067.5:c.358-2211_358-2207del	ENSP00000443969.1:n.358-2211_358-2207del
ENST00000537484.1:c.506_510del	ENSP00000440179.1:p.Asn169MetfsTer2
ENST00000542167.2:c.422_426del	ENSP00000438948.1:p.Asn141MetfsTer2
ENST00000543754.1:n.402_406del
NM_001002019.2:c.497_501del	NP_001002019.1:p.Asn166MetfsTer2
NM_001002020.2:c.497_501del	NP_001002020.1:p.Asn166MetfsTer2
NM_025215.5:c.581_585del	NP_079491.2:p.Asn194MetfsTer2
XM_011538768.1:c.182_186del	XP_011537070.1:p.Asn61MetfsTer2
XM_011538768.3:c.182_186del	XP_011537070.1:p.Asn61MetfsTer2
XR_001748872.1:n.1036_1040del
NM_001002019.3:c.497_501del	NP_001002019.1:p.Asn166MetfsTer2
NM_001002020.3:c.497_501del	NP_001002020.1:p.Asn166MetfsTer2
NM_025215.6:c.581_585del MANE Select	NP_079491.2:p.Asn194MetfsTer2