Canonical Allele Identifier: CA2504981227

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941479_131941480insATCATCGCGAACGGCGTCGCC , CM000674.2:g.131941479_131941480insATCATCGCGAACGGCGTCGCC	GRCh38
NC_000012.11:g.132426024_132426025insATCATCGCGAACGGCGTCGCC , CM000674.1:g.132426024_132426025insATCATCGCGAACGGCGTCGCC	GRCh37
NC_000012.10:g.130991977_130991978insATCATCGCGAACGGCGTCGCC	NCBI36
NG_013039.1:g.17280_17281insATCATCGCGAACGGCGTCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.732_733insATCATCGCGAACGGCGTCGCC MANE Select	ENSP00000365837.3:p.Asn244_Phe245insIleIleAlaAsnGlyValAla
ENST00000322060.9:c.648_649insATCATCGCGAACGGCGTCGCC	ENSP00000324726.5:p.Asn216_Phe217insIleIleAlaAsnGlyValAla
ENST00000376649.7:c.732_733insATCATCGCGAACGGCGTCGCC	ENSP00000365837.3:p.Asn244_Phe245insIleIleAlaAsnGlyValAla
ENST00000443358.6:c.648_649insATCATCGCGAACGGCGTCGCC	ENSP00000392451.2:p.Asn216_Phe217insIleIleAlaAsnGlyValAla
ENST00000535067.5:c.358-2060_358-2059insATCATCGCGAACGGCGTCGCC	ENSP00000443969.1:n.358-2060_358-2059insATCATCGCGAACGGCGTCGCC...
ENST00000542167.2:c.573_574insATCATCGCGAACGGCGTCGCC	ENSP00000438948.1:p.Asn191_Phe192insIleIleAlaAsnGlyValAla
ENST00000543754.1:n.553_554insATCATCGCGAACGGCGTCGCC
NM_001002019.2:c.648_649insATCATCGCGAACGGCGTCGCC	NP_001002019.1:p.Asn216_Phe217insIleIleAlaAsnGlyValAla
NM_001002020.2:c.648_649insATCATCGCGAACGGCGTCGCC	NP_001002020.1:p.Asn216_Phe217insIleIleAlaAsnGlyValAla
NM_025215.5:c.732_733insATCATCGCGAACGGCGTCGCC	NP_079491.2:p.Asn244_Phe245insIleIleAlaAsnGlyValAla
XM_011538768.1:c.333_334insATCATCGCGAACGGCGTCGCC	XP_011537070.1:p.Asn111_Phe112insIleIleAlaAsnGlyValAla
XM_011538768.3:c.333_334insATCATCGCGAACGGCGTCGCC	XP_011537070.1:p.Asn111_Phe112insIleIleAlaAsnGlyValAla
XR_001748872.1:n.1187_1188insATCATCGCGAACGGCGTCGCC
NM_001002019.3:c.648_649insATCATCGCGAACGGCGTCGCC	NP_001002019.1:p.Asn216_Phe217insIleIleAlaAsnGlyValAla
NM_001002020.3:c.648_649insATCATCGCGAACGGCGTCGCC	NP_001002020.1:p.Asn216_Phe217insIleIleAlaAsnGlyValAla
NM_025215.6:c.732_733insATCATCGCGAACGGCGTCGCC MANE Select	NP_079491.2:p.Asn244_Phe245insIleIleAlaAsnGlyValAla