Canonical Allele Identifier: CA2072621107

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941442_131941447delinsTCAACA , CM000674.2:g.131941442_131941447delinsTCAACA	GRCh38
NC_000012.11:g.132425987_132425992delinsTCAACA , CM000674.1:g.132425987_132425992delinsTCAACA	GRCh37
NC_000012.10:g.130991940_130991945delinsTCAACA	NCBI36
NG_013039.1:g.17243_17248delinsTCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.695_700delinsTCAACA MANE Select	ENSP00000365837.3:p.Val232=
ENST00000322060.9:c.611_616delinsTCAACA	ENSP00000324726.5:p.Val204=
ENST00000376649.7:c.695_700delinsTCAACA	ENSP00000365837.3:p.Val232=
ENST00000443358.6:c.611_616delinsTCAACA	ENSP00000392451.2:p.Val204=
ENST00000535067.5:c.358-2097_358-2092delinsTCAACA	ENSP00000443969.1:n.358-2097_358-2092delinsTCAACA
ENST00000542167.2:c.536_541delinsTCAACA	ENSP00000438948.1:p.Val179=
ENST00000543754.1:n.516_521delinsTCAACA
NM_001002019.2:c.611_616delinsTCAACA	NP_001002019.1:p.Val204=
NM_001002020.2:c.611_616delinsTCAACA	NP_001002020.1:p.Val204=
NM_025215.5:c.695_700delinsTCAACA	NP_079491.2:p.Val232=
XM_011538768.1:c.296_301delinsTCAACA	XP_011537070.1:p.Val99=
XM_011538768.3:c.296_301delinsTCAACA	XP_011537070.1:p.Val99=
XR_001748872.1:n.1150_1155delinsTCAACA
NM_001002019.3:c.611_616delinsTCAACA	NP_001002019.1:p.Val204=
NM_001002020.3:c.611_616delinsTCAACA	NP_001002020.1:p.Val204=
NM_025215.6:c.695_700delinsTCAACA MANE Select	NP_079491.2:p.Val232=