Canonical Allele Identifier: CA2554253338

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941481_131941482insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA , CM000674.2:g.131941481_131941482insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	GRCh38
NC_000012.11:g.132426026_132426027insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA , CM000674.1:g.132426026_132426027insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	GRCh37
NC_000012.10:g.130991979_130991980insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	NCBI36
NG_013039.1:g.17282_17283insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.734_735insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA MANE Select	ENSP00000365837.3:p.Phe245_His246insAspProGluValCysLeuGlnGluM...
ENST00000322060.9:c.650_651insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	ENSP00000324726.5:p.Phe217_His218insAspProGluValCysLeuGlnGluM...
ENST00000376649.7:c.734_735insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	ENSP00000365837.3:p.Phe245_His246insAspProGluValCysLeuGlnGluM...
ENST00000443358.6:c.650_651insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	ENSP00000392451.2:p.Phe217_His218insAspProGluValCysLeuGlnGluM...
ENST00000535067.5:c.358-2058_358-2057insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	ENSP00000443969.1:n.358-2058_358-2057insTGACCCCGAGGTCTGCCTGCA...
ENST00000542167.2:c.575_576insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	ENSP00000438948.1:p.Phe192_His193insAspProGluValCysLeuGlnGluM...
ENST00000543754.1:n.555_556insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA
NM_001002019.2:c.650_651insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	NP_001002019.1:p.Phe217_His218insAspProGluValCysLeuGlnGluMetA...
NM_001002020.2:c.650_651insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	NP_001002020.1:p.Phe217_His218insAspProGluValCysLeuGlnGluMetA...
NM_025215.5:c.734_735insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	NP_079491.2:p.Phe245_His246insAspProGluValCysLeuGlnGluMetAspA...
XM_011538768.1:c.335_336insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	XP_011537070.1:p.Phe112_His113insAspProGluValCysLeuGlnGluMetA...
XM_011538768.3:c.335_336insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	XP_011537070.1:p.Phe112_His113insAspProGluValCysLeuGlnGluMetA...
XR_001748872.1:n.1189_1190insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA
NM_001002019.3:c.650_651insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	NP_001002019.1:p.Phe217_His218insAspProGluValCysLeuGlnGluMetA...
NM_001002020.3:c.650_651insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA	NP_001002020.1:p.Phe217_His218insAspProGluValCysLeuGlnGluMetA...
NM_025215.6:c.734_735insTGACCCCGAGGTCTGCCTGCAGGAGATGGACGCCATGGCGGCGCGCGGCATCGACACATCGAACATCCGCATCTCCGACCGTGCGCACGTTGTCATGCCCTA MANE Select	NP_079491.2:p.Phe245_His246insAspProGluValCysLeuGlnGluMetAspA...