Canonical Allele Identifier: CA325560089

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525869_50525890del , CM000684.2:g.50525869_50525890del	GRCh38
NC_000022.10:g.50964298_50964319del , CM000684.1:g.50964298_50964319del	GRCh37
NC_000022.9:g.49311164_49311185del	NCBI36
NG_011860.1:g.9197_9218del , LRG_727:g.9197_9218del
NG_016235.1:g.5551_5572del
NG_021419.1:g.22654_22675del

Transcript Alleles

HGVS	Amino-acid Change
NM_001953.5:c.1330_1351del (TYMP) MANE Select	NP_001944.1:p.Gly444ArgfsTer?
ENST00000252029.8:c.1330_1351del (TYMP) MANE Select	ENSP00000252029.3:p.Gly444ArgfsTer?
NM_001113755.2:c.1330_1351del (TYMP)	NP_001107227.1:p.Gly444ArgfsTer?
NM_001113755.3:c.1330_1351del (TYMP)	NP_001107227.1:p.Gly444ArgfsTer?
NM_001113756.2:c.1330_1351del (TYMP)	NP_001107228.1:p.Gly444ArgfsTer?
NM_001113756.3:c.1330_1351del (TYMP)	NP_001107228.1:p.Gly444ArgfsTer?
NM_001169109.1:c.-14+357_-14+378del (SCO2)	NP_001162580.1:n.-14+357_-14+378del
NM_001169109.2:c.-14+357_-14+378del (SCO2)	NP_001162580.1:n.-14+357_-14+378del
NM_001169110.1:c.-14+112_-14+133del (SCO2)	NP_001162581.1:n.-14+112_-14+133del
NM_001257988.1:c.1330_1351del , LRG_727t1:c.1330_1351del (TYMP)	NP_001244917.1:p.Gly444ArgfsTer?
NM_001257989.1:c.1345_1366del , LRG_727t2:c.1345_1366del (TYMP)	NP_001244918.1:p.Gly449ArgfsTer?
NM_001953.4:c.1330_1351del (TYMP)	NP_001944.1:p.Gly444ArgfsTer?
ENST00000252029.7:c.1330_1351del (TYMP)	ENSP00000252029.3:p.Gly444ArgfsTer?
ENST00000395678.7:c.1330_1351del (TYMP)	ENSP00000379036.3:p.Gly444ArgfsTer?
ENST00000395680.5:c.1330_1351del (TYMP)	ENSP00000379037.1:p.Gly444ArgfsTer?
ENST00000395680.6:c.1330_1351del (TYMP)	ENSP00000379037.1:p.Gly444ArgfsTer?
ENST00000395681.5:c.1345_1366del (TYMP)	ENSP00000379038.1:p.Gly449ArgfsTer?
ENST00000395681.6:c.1345_1366del (TYMP)	ENSP00000379038.1:p.Gly449ArgfsTer?
ENST00000423348.1:c.-14+357_-14+378del	ENSP00000403570.1:n.-14+357_-14+378del
ENST00000425169.1:c.1231_1252del (TYMP)	ENSP00000395875.1:p.Gly411ArgfsTer?
ENST00000439934.5:c.-14+112_-14+133del	ENSP00000415642.1:n.-14+112_-14+133del
ENST00000476284.1:n.1440_1461del (TYMP)
ENST00000487577.5:n.1617_1638del (TYMP)
ENST00000535425.5:c.-14+112_-14+133del	ENSP00000444242.1:n.-14+112_-14+133del
ENST00000543927.5:c.-14+357_-14+378del	ENSP00000444433.1:n.-14+357_-14+378del
ENST00000543927.6:c.-14+357_-14+378del (SCO2)	ENSP00000444433.1:n.-14+357_-14+378del
ENST00000638598.2:c.-14+112_-14+133del (SCO2)	ENSP00000491753.2:n.-14+112_-14+133del
ENST00000651490.1:c.122_143del (TYMP)
ENST00000652401.1:c.831_852del (TYMP)