Canonical Allele Identifier: CA2072621154

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941466_131941467delinsAG , CM000674.2:g.131941466_131941467delinsAG	GRCh38
NC_000012.11:g.132426011_132426012delinsAG , CM000674.1:g.132426011_132426012delinsAG	GRCh37
NC_000012.10:g.130991964_130991965delinsAG	NCBI36
NG_013039.1:g.17267_17268delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.719_720delinsAG MANE Select	ENSP00000365837.3:p.Lys240=
ENST00000322060.9:c.635_636delinsAG	ENSP00000324726.5:p.Lys212=
ENST00000376649.7:c.719_720delinsAG	ENSP00000365837.3:p.Lys240=
ENST00000443358.6:c.635_636delinsAG	ENSP00000392451.2:p.Lys212=
ENST00000535067.5:c.358-2073_358-2072delinsAG	ENSP00000443969.1:n.358-2073_358-2072delinsAG
ENST00000542167.2:c.560_561delinsAG	ENSP00000438948.1:p.Lys187=
ENST00000543754.1:n.540_541delinsAG
NM_001002019.2:c.635_636delinsAG	NP_001002019.1:p.Lys212=
NM_001002020.2:c.635_636delinsAG	NP_001002020.1:p.Lys212=
NM_025215.5:c.719_720delinsAG	NP_079491.2:p.Lys240=
XM_011538768.1:c.320_321delinsAG	XP_011537070.1:p.Lys107=
XM_011538768.3:c.320_321delinsAG	XP_011537070.1:p.Lys107=
XR_001748872.1:n.1174_1175delinsAG
NM_001002019.3:c.635_636delinsAG	NP_001002019.1:p.Lys212=
NM_001002020.3:c.635_636delinsAG	NP_001002020.1:p.Lys212=
NM_025215.6:c.719_720delinsAG MANE Select	NP_079491.2:p.Lys240=