Canonical Allele Identifier: CA2575354281

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941314del , CM000674.2:g.131941314del	GRCh38
NC_000012.11:g.132425859del , CM000674.1:g.132425859del	GRCh37
NC_000012.10:g.130991812del	NCBI36
NG_013039.1:g.17115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.567del MANE Select	ENSP00000365837.3:p.Phe190LeufsTer?
ENST00000322060.9:c.483del	ENSP00000324726.5:p.Phe162LeufsTer?
ENST00000376649.7:c.567del	ENSP00000365837.3:p.Phe190LeufsTer?
ENST00000443358.6:c.483del	ENSP00000392451.2:p.Phe162LeufsTer?
ENST00000535067.5:c.358-2225del	ENSP00000443969.1:n.358-2225del
ENST00000537484.1:c.492del	ENSP00000440179.1:p.Phe165LeufsTer?
ENST00000542167.2:c.408del	ENSP00000438948.1:p.Phe137LeufsTer?
ENST00000543754.1:n.388del
NM_001002019.2:c.483del	NP_001002019.1:p.Phe162LeufsTer?
NM_001002020.2:c.483del	NP_001002020.1:p.Phe162LeufsTer?
NM_025215.5:c.567del	NP_079491.2:p.Phe190LeufsTer?
XM_011538768.1:c.168del	XP_011537070.1:p.Phe57LeufsTer?
XM_011538768.3:c.168del	XP_011537070.1:p.Phe57LeufsTer?
XR_001748872.1:n.1022del
NM_001002019.3:c.483del	NP_001002019.1:p.Phe162LeufsTer?
NM_001002020.3:c.483del	NP_001002020.1:p.Phe162LeufsTer?
NM_025215.6:c.567del MANE Select	NP_079491.2:p.Phe190LeufsTer?