Canonical Allele Identifier: CA2072627140

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941288_131941289delinsCT , CM000674.2:g.131941288_131941289delinsCT	GRCh38
NC_000012.11:g.132425833_132425834delinsCT , CM000674.1:g.132425833_132425834delinsCT	GRCh37
NC_000012.10:g.130991786_130991787delinsCT	NCBI36
NG_013039.1:g.17089_17090delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-4_545-3delinsCT MANE Select	ENSP00000365837.3:n.545-4_545-3delinsCT
ENST00000322060.9:c.461-4_461-3delinsCT	ENSP00000324726.5:n.461-4_461-3delinsCT
ENST00000376649.7:c.545-4_545-3delinsCT	ENSP00000365837.3:n.545-4_545-3delinsCT
ENST00000443358.6:c.461-4_461-3delinsCT	ENSP00000392451.2:n.461-4_461-3delinsCT
ENST00000535067.5:c.358-2251_358-2250delinsCT	ENSP00000443969.1:n.358-2251_358-2250delinsCT
ENST00000537484.1:c.470-4_470-3delinsCT	ENSP00000440179.1:n.470-4_470-3delinsCT
ENST00000542167.2:c.386-4_386-3delinsCT	ENSP00000438948.1:n.386-4_386-3delinsCT
ENST00000543754.1:n.362_363delinsCT
NM_001002019.2:c.461-4_461-3delinsCT	NP_001002019.1:n.461-4_461-3delinsCT
NM_001002020.2:c.461-4_461-3delinsCT	NP_001002020.1:n.461-4_461-3delinsCT
NM_025215.5:c.545-4_545-3delinsCT	NP_079491.2:n.545-4_545-3delinsCT
XM_011538768.1:c.146-4_146-3delinsCT	XP_011537070.1:n.146-4_146-3delinsCT
XM_011538768.3:c.146-4_146-3delinsCT	XP_011537070.1:n.146-4_146-3delinsCT
XR_001748872.1:n.1000-4_1000-3delinsCT
NM_001002019.3:c.461-4_461-3delinsCT	NP_001002019.1:n.461-4_461-3delinsCT
NM_001002020.3:c.461-4_461-3delinsCT	NP_001002020.1:n.461-4_461-3delinsCT
NM_025215.6:c.545-4_545-3delinsCT MANE Select	NP_079491.2:n.545-4_545-3delinsCT