Canonical Allele Identifier: CA2410907436

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525857_50525879delinsGGCGCGGCTCTGCGGGCCGCTGA , CM000684.2:g.50525857_50525879delinsGGCGCGGCTCTGCGGGCCGCTGA	GRCh38
NC_000022.10:g.50964286_50964308delinsGGCGCGGCTCTGCGGGCCGCTGA , CM000684.1:g.50964286_50964308delinsGGCGCGGCTCTGCGGGCCGCTGA	GRCh37
NC_000022.9:g.49311152_49311174delinsGGCGCGGCTCTGCGGGCCGCTGA	NCBI36
NG_011860.1:g.9207_9229delinsTCAGCGGCCCGCAGAGCCGCGCC , LRG_727:g.9207_9229delinsTCAGCGGCCCGCAGAGCCGCGCC
NG_016235.1:g.5561_5583delinsTCAGCGGCCCGCAGAGCCGCGCC
NG_021419.1:g.22642_22664delinsGGCGCGGCTCTGCGGGCCGCTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP) MANE Select	ENSP00000252029.3:p.Leu447=
ENST00000395680.6:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	ENSP00000379037.1:p.Leu447=
ENST00000395681.6:c.1355_1377delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	ENSP00000379038.1:p.Leu452=
ENST00000543927.6:c.-14+367_-14+389delinsTCAGCGGCCCGCAGAGCCGCGCC (SCO2)	ENSP00000444433.1:n.-14+367_-14+389delins...
ENST00000638598.2:c.-14+122_-14+144delinsTCAGCGGCCCGCAGAGCCGCGCC (SCO2)	ENSP00000491753.2:n.-14+122_-14+144delins...
ENST00000651490.1:c.132_154delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)
ENST00000652401.1:c.841_863delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)
ENST00000252029.7:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	ENSP00000252029.3:p.Leu447=
ENST00000395678.7:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	ENSP00000379036.3:p.Leu447=
ENST00000395680.5:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	ENSP00000379037.1:p.Leu447=
ENST00000395681.5:c.1355_1377delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	ENSP00000379038.1:p.Leu452=
ENST00000423348.1:c.-14+367_-14+389delinsTCAGCGGCCCGCAGAGCCGCGCC	ENSP00000403570.1:n.-14+367_-14+389delins...
ENST00000425169.1:c.1241_1263delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	ENSP00000395875.1:p.Leu414=
ENST00000439934.5:c.-14+122_-14+144delinsTCAGCGGCCCGCAGAGCCGCGCC	ENSP00000415642.1:n.-14+122_-14+144delins...
ENST00000476284.1:n.1450_1472delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)
ENST00000487577.5:n.1627_1649delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)
ENST00000535425.5:c.-14+122_-14+144delinsTCAGCGGCCCGCAGAGCCGCGCC	ENSP00000444242.1:n.-14+122_-14+144delins...
ENST00000543927.5:c.-14+367_-14+389delinsTCAGCGGCCCGCAGAGCCGCGCC	ENSP00000444433.1:n.-14+367_-14+389delins...
NM_001113755.2:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	NP_001107227.1:p.Leu447=
NM_001113756.2:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	NP_001107228.1:p.Leu447=
NM_001169109.1:c.-14+367_-14+389delinsTCAGCGGCCCGCAGAGCCGCGCC (SCO2)	NP_001162580.1:n.-14+367_-14+389delinsTCA...
NM_001169110.1:c.-14+122_-14+144delinsTCAGCGGCCCGCAGAGCCGCGCC (SCO2)	NP_001162581.1:n.-14+122_-14+144delinsTCA...
NM_001257988.1:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC , LRG_727t1:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	NP_001244917.1:p.Leu447=
NM_001257989.1:c.1355_1377delinsTCAGCGGCCCGCAGAGCCGCGCC , LRG_727t2:c.1355_1377delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	NP_001244918.1:p.Leu452=
NM_001953.4:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	NP_001944.1:p.Leu447=
NM_001113755.3:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	NP_001107227.1:p.Leu447=
NM_001113756.3:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP)	NP_001107228.1:p.Leu447=
NM_001953.5:c.1340_1362delinsTCAGCGGCCCGCAGAGCCGCGCC (TYMP) MANE Select	NP_001944.1:p.Leu447=
NM_001169109.2:c.-14+367_-14+389delinsTCAGCGGCCCGCAGAGCCGCGCC (SCO2)	NP_001162580.1:n.-14+367_-14+389delinsTCA...