Canonical Allele Identifier: CA2695231152

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525819_50525825del , CM000684.2:g.50525819_50525825del	GRCh38
NC_000022.10:g.50964248_50964254del , CM000684.1:g.50964248_50964254del	GRCh37
NC_000022.9:g.49311114_49311120del	NCBI36
NG_011860.1:g.9265_9271del , LRG_727:g.9265_9271del
NG_016235.1:g.5619_5625del
NG_021419.1:g.22604_22610del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1398_1404del (TYMP) MANE Select	ENSP00000252029.3:p.Phe467ProfsTer?
ENST00000395680.6:c.1398_1404del (TYMP)	ENSP00000379037.1:p.Phe467ProfsTer?
ENST00000395681.6:c.1413_1419del (TYMP)	ENSP00000379038.1:p.Phe472ProfsTer?
ENST00000543927.6:c.-14+425_-14+431del (SCO2)	ENSP00000444433.1:n.-14+425_-14+431del
ENST00000638598.2:c.-14+180_-14+186del (SCO2)	ENSP00000491753.2:n.-14+180_-14+186del
ENST00000651490.1:c.190_196del (TYMP)
ENST00000252029.7:c.1398_1404del (TYMP)	ENSP00000252029.3:p.Phe467ProfsTer?
ENST00000395678.7:c.1398_1404del (TYMP)	ENSP00000379036.3:p.Phe467ProfsTer?
ENST00000395680.5:c.1398_1404del (TYMP)	ENSP00000379037.1:p.Phe467ProfsTer?
ENST00000395681.5:c.1413_1419del (TYMP)	ENSP00000379038.1:p.Phe472ProfsTer?
ENST00000423348.1:c.-14+425_-14+431del	ENSP00000403570.1:n.-14+425_-14+431del
ENST00000425169.1:c.1299_1305del (TYMP)	ENSP00000395875.1:p.Phe434ProfsTer?
ENST00000439934.5:c.-14+180_-14+186del	ENSP00000415642.1:n.-14+180_-14+186del
ENST00000476284.1:n.1508_1514del (TYMP)
ENST00000487577.5:n.1685_1691del (TYMP)
ENST00000535425.5:c.-14+180_-14+186del	ENSP00000444242.1:n.-14+180_-14+186del
ENST00000543927.5:c.-14+425_-14+431del	ENSP00000444433.1:n.-14+425_-14+431del
NM_001113755.2:c.1398_1404del (TYMP)	NP_001107227.1:p.Phe467ProfsTer?
NM_001113756.2:c.1398_1404del (TYMP)	NP_001107228.1:p.Phe467ProfsTer?
NM_001169109.1:c.-14+425_-14+431del (SCO2)	NP_001162580.1:n.-14+425_-14+431del
NM_001169110.1:c.-14+180_-14+186del (SCO2)	NP_001162581.1:n.-14+180_-14+186del
NM_001257988.1:c.1398_1404del , LRG_727t1:c.1398_1404del (TYMP)	NP_001244917.1:p.Phe467ProfsTer?
NM_001257989.1:c.1413_1419del , LRG_727t2:c.1413_1419del (TYMP)	NP_001244918.1:p.Phe472ProfsTer?
NM_001953.4:c.1398_1404del (TYMP)	NP_001944.1:p.Phe467ProfsTer?
NM_001113755.3:c.1398_1404del (TYMP)	NP_001107227.1:p.Phe467ProfsTer?
NM_001113756.3:c.1398_1404del (TYMP)	NP_001107228.1:p.Phe467ProfsTer?
NM_001953.5:c.1398_1404del (TYMP) MANE Select	NP_001944.1:p.Phe467ProfsTer?
NM_001169109.2:c.-14+425_-14+431del (SCO2)	NP_001162580.1:n.-14+425_-14+431del