Canonical Allele Identifier: CA2072627079

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941267_131941268delinsTC , CM000674.2:g.131941267_131941268delinsTC	GRCh38
NC_000012.11:g.132425812_132425813delinsTC , CM000674.1:g.132425812_132425813delinsTC	GRCh37
NC_000012.10:g.130991765_130991766delinsTC	NCBI36
NG_013039.1:g.17068_17069delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-25_545-24delinsTC MANE Select	ENSP00000365837.3:n.545-25_545-24delinsTC
ENST00000322060.9:c.461-25_461-24delinsTC	ENSP00000324726.5:n.461-25_461-24delinsTC
ENST00000376649.7:c.545-25_545-24delinsTC	ENSP00000365837.3:n.545-25_545-24delinsTC
ENST00000443358.6:c.461-25_461-24delinsTC	ENSP00000392451.2:n.461-25_461-24delinsTC
ENST00000535067.5:c.358-2272_358-2271delinsTC	ENSP00000443969.1:n.358-2272_358-2271delinsTC
ENST00000537484.1:c.470-25_470-24delinsTC	ENSP00000440179.1:n.470-25_470-24delinsTC
ENST00000542167.2:c.386-25_386-24delinsTC	ENSP00000438948.1:n.386-25_386-24delinsTC
ENST00000543754.1:n.341_342delinsTC
NM_001002019.2:c.461-25_461-24delinsTC	NP_001002019.1:n.461-25_461-24delinsTC
NM_001002020.2:c.461-25_461-24delinsTC	NP_001002020.1:n.461-25_461-24delinsTC
NM_025215.5:c.545-25_545-24delinsTC	NP_079491.2:n.545-25_545-24delinsTC
XM_011538768.1:c.146-25_146-24delinsTC	XP_011537070.1:n.146-25_146-24delinsTC
XM_011538768.3:c.146-25_146-24delinsTC	XP_011537070.1:n.146-25_146-24delinsTC
XR_001748872.1:n.1000-25_1000-24delinsTC
NM_001002019.3:c.461-25_461-24delinsTC	NP_001002019.1:n.461-25_461-24delinsTC
NM_001002020.3:c.461-25_461-24delinsTC	NP_001002020.1:n.461-25_461-24delinsTC
NM_025215.6:c.545-25_545-24delinsTC MANE Select	NP_079491.2:n.545-25_545-24delinsTC