Canonical Allele Identifier: CA2072621103

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941440_131941450delinsGGTCAACAGGC , CM000674.2:g.131941440_131941450delinsGGTCAACAGGC	GRCh38
NC_000012.11:g.132425985_132425995delinsGGTCAACAGGC , CM000674.1:g.132425985_132425995delinsGGTCAACAGGC	GRCh37
NC_000012.10:g.130991938_130991948delinsGGTCAACAGGC	NCBI36
NG_013039.1:g.17241_17251delinsGGTCAACAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.693_703delinsGGTCAACAGGC MANE Select	ENSP00000365837.3:p.Gln231=
ENST00000322060.9:c.609_619delinsGGTCAACAGGC	ENSP00000324726.5:p.Gln203=
ENST00000376649.7:c.693_703delinsGGTCAACAGGC	ENSP00000365837.3:p.Gln231=
ENST00000443358.6:c.609_619delinsGGTCAACAGGC	ENSP00000392451.2:p.Gln203=
ENST00000535067.5:c.358-2099_358-2089delinsGGTCAACAGGC	ENSP00000443969.1:n.358-2099_358-2089delinsGGTCAACAGGC
ENST00000542167.2:c.534_544delinsGGTCAACAGGC	ENSP00000438948.1:p.Gln178=
ENST00000543754.1:n.514_524delinsGGTCAACAGGC
NM_001002019.2:c.609_619delinsGGTCAACAGGC	NP_001002019.1:p.Gln203=
NM_001002020.2:c.609_619delinsGGTCAACAGGC	NP_001002020.1:p.Gln203=
NM_025215.5:c.693_703delinsGGTCAACAGGC	NP_079491.2:p.Gln231=
XM_011538768.1:c.294_304delinsGGTCAACAGGC	XP_011537070.1:p.Gln98=
XM_011538768.3:c.294_304delinsGGTCAACAGGC	XP_011537070.1:p.Gln98=
XR_001748872.1:n.1148_1158delinsGGTCAACAGGC
NM_001002019.3:c.609_619delinsGGTCAACAGGC	NP_001002019.1:p.Gln203=
NM_001002020.3:c.609_619delinsGGTCAACAGGC	NP_001002020.1:p.Gln203=
NM_025215.6:c.693_703delinsGGTCAACAGGC MANE Select	NP_079491.2:p.Gln231=