Canonical Allele Identifier: CA2499936334

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526367_50526368insGCGTTCGTGCTATGGTGGGCTGCCGTCAGCCCCCGCTCCGCTAACCGCTGCTGCAACTCGTCCGCCTGGGGGGTTTCCACCTCCACGATCGTGCCGTCCGCCAAAAACTCCGCCATCGAATACTCACCA , CM000684.2:g.50526367_50526368insGCGTTCGTGCTATGGTGGGCTGCCGTCAGCCCCCGCTCCGCTAACCGCTGCTGCAACTCGTCCGCCTGGGGGGTTTCCACCTCCACGATCGTGCCGTCCGCCAAAAACTCCGCCATCGAATACTCACCA	GRCh38
NC_000022.10:g.50964796_50964797insGCGTTCGTGCTATGGTGGGCTGCCGTCAGCCCCCGCTCCGCTAACCGCTGCTGCAACTCGTCCGCCTGGGGGGTTTCCACCTCCACGATCGTGCCGTCCGCCAAAAACTCCGCCATCGAATACTCACCA , CM000684.1:g.50964796_50964797insGCGTTCGTGCTATGGTGGGCTGCCGTCAGCCCCCGCTCCGCTAACCGCTGCTGCAACTCGTCCGCCTGGGGGGTTTCCACCTCCACGATCGTGCCGTCCGCCAAAAACTCCGCCATCGAATACTCACCA	GRCh37
NC_000022.9:g.49311662_49311663insGCGTTCGTGCTATGGTGGGCTGCCGTCAGCCCCCGCTCCGCTAACCGCTGCTGCAACTCGTCCGCCTGGGGGGTTTCCACCTCCACGATCGTGCCGTCCGCCAAAAACTCCGCCATCGAATACTCACCA	NCBI36
NG_011860.1:g.8718_8719insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC , LRG_727:g.8718_8719insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC
NG_016235.1:g.5072_5073insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC
NG_021419.1:g.23152_23153insGCGTTCGTGCTATGGTGGGCTGCCGTCAGCCCCCGCTCCGCTAACCGCTGCTGCAACTCGTCCGCCTGGGGGGTTTCCACCTCCACGATCGTGCCGTCCGCCAAAAACTCCGCCATCGAATACTCACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP) MANE Select	ENSP00000252029.3:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000395680.6:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	ENSP00000379037.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000395681.6:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	ENSP00000379038.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000543927.6:c.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (SCO2)	ENSP00000444433.1:n.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGG...
ENST00000650719.1:c.918_919insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)
ENST00000652401.1:c.538_539insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)
ENST00000252029.7:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	ENSP00000252029.3:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000395678.7:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	ENSP00000379036.3:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000395680.5:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	ENSP00000379037.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000395681.5:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	ENSP00000379038.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000423348.1:c.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC	ENSP00000403570.1:n.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGG...
ENST00000425169.1:c.938_939insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	ENSP00000395875.1:p.Met313delinsIleGlyGluTyrSerMetAlaGluPheLe...
ENST00000476284.1:n.1043_1044insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)
ENST00000487577.5:n.1324_1325insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)
ENST00000543927.5:c.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC	ENSP00000444433.1:n.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGG...
NM_001113755.2:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	NP_001107227.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAl...
NM_001113756.2:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	NP_001107228.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAl...
NM_001169109.1:c.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (SCO2)	NP_001162580.1:n.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGG...
NM_001257988.1:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC , LRG_727t1:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	NP_001244917.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAl...
NM_001257989.1:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC , LRG_727t2:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	NP_001244918.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAl...
NM_001953.4:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	NP_001944.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAlaAs...
NM_001113755.3:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	NP_001107227.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAl...
NM_001113756.3:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP)	NP_001107228.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAl...
NM_001953.5:c.1037_1038insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (TYMP) MANE Select	NP_001944.1:p.Met346delinsIleGlyGluTyrSerMetAlaGluPheLeuAlaAs...
NM_001169109.2:c.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGGACGGCACGATCGTGGAGGTGGAAACCCCCCAGGCGGACGAGTTGCAGCAGCGGTTAGCGGAGCGGGGGCTGACGGCAGCCCACCATAGCACGAACGC (SCO2)	NP_001162580.1:n.-136_-135insTGGTGAGTATTCGATGGCGGAGTTTTTGGCGG...