Canonical Allele Identifier: CA2072621119

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941448_131941453delinsGGCTCC , CM000674.2:g.131941448_131941453delinsGGCTCC	GRCh38
NC_000012.11:g.132425993_132425998delinsGGCTCC , CM000674.1:g.132425993_132425998delinsGGCTCC	GRCh37
NC_000012.10:g.130991946_130991951delinsGGCTCC	NCBI36
NG_013039.1:g.17249_17254delinsGGCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.701_706delinsGGCTCC MANE Select	ENSP00000365837.3:p.Arg234=
ENST00000322060.9:c.617_622delinsGGCTCC	ENSP00000324726.5:p.Arg206=
ENST00000376649.7:c.701_706delinsGGCTCC	ENSP00000365837.3:p.Arg234=
ENST00000443358.6:c.617_622delinsGGCTCC	ENSP00000392451.2:p.Arg206=
ENST00000535067.5:c.358-2091_358-2086delinsGGCTCC	ENSP00000443969.1:n.358-2091_358-2086delinsGGCTCC
ENST00000542167.2:c.542_547delinsGGCTCC	ENSP00000438948.1:p.Arg181=
ENST00000543754.1:n.522_527delinsGGCTCC
NM_001002019.2:c.617_622delinsGGCTCC	NP_001002019.1:p.Arg206=
NM_001002020.2:c.617_622delinsGGCTCC	NP_001002020.1:p.Arg206=
NM_025215.5:c.701_706delinsGGCTCC	NP_079491.2:p.Arg234=
XM_011538768.1:c.302_307delinsGGCTCC	XP_011537070.1:p.Arg101=
XM_011538768.3:c.302_307delinsGGCTCC	XP_011537070.1:p.Arg101=
XR_001748872.1:n.1156_1161delinsGGCTCC
NM_001002019.3:c.617_622delinsGGCTCC	NP_001002019.1:p.Arg206=
NM_001002020.3:c.617_622delinsGGCTCC	NP_001002020.1:p.Arg206=
NM_025215.6:c.701_706delinsGGCTCC MANE Select	NP_079491.2:p.Arg234=