Canonical Allele Identifier: CA2072621262

Gene: PUS1

Linked Data

• dbSNP Id: rs1891067336
• gnomAD v4: 12-131941537-CTGGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941540_131941545del , CM000674.2:g.131941540_131941545del	GRCh38
NC_000012.11:g.132426085_132426090del , CM000674.1:g.132426085_132426090del	GRCh37
NC_000012.10:g.130992038_130992043del	NCBI36
NG_013039.1:g.17341_17346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.793_798del MANE Select	ENSP00000365837.3:p.Glu265_Met266del
ENST00000322060.9:c.709_714del	ENSP00000324726.5:p.Glu237_Met238del
ENST00000376649.7:c.793_798del	ENSP00000365837.3:p.Glu265_Met266del
ENST00000443358.6:c.709_714del	ENSP00000392451.2:p.Glu237_Met238del
ENST00000535067.5:c.358-1999_358-1994del	ENSP00000443969.1:n.358-1999_358-1994del
ENST00000542167.2:c.634_639del	ENSP00000438948.1:p.Glu212_Met213del
ENST00000543754.1:n.614_619del
NM_001002019.2:c.709_714del	NP_001002019.1:p.Glu237_Met238del
NM_001002020.2:c.709_714del	NP_001002020.1:p.Glu237_Met238del
NM_025215.5:c.793_798del	NP_079491.2:p.Glu265_Met266del
XM_011538768.1:c.394_399del	XP_011537070.1:p.Glu132_Met133del
XM_011538768.3:c.394_399del	XP_011537070.1:p.Glu132_Met133del
XR_001748872.1:n.1248_1253del
NM_001002019.3:c.709_714del	NP_001002019.1:p.Glu237_Met238del
NM_001002020.3:c.709_714del	NP_001002020.1:p.Glu237_Met238del
NM_025215.6:c.793_798del MANE Select	NP_079491.2:p.Glu265_Met266del