Canonical Allele Identifier: CA212980

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526002_50526142del , CM000684.2:g.50526002_50526142del	GRCh38
NC_000022.10:g.50964431_50964571del , CM000684.1:g.50964431_50964571del	GRCh37
NC_000022.9:g.49311297_49311437del	NCBI36
NG_011860.1:g.8946_9086del , LRG_727:g.8946_9086del
NG_016235.1:g.5300_5440del
NG_021419.1:g.22787_22927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1161_1300+1del (TYMP)
ENST00000395680.6:c.1161_1300+1del (TYMP)
ENST00000395681.6:c.1176_1315+1del (TYMP)
ENST00000543927.6:c.-14+106_-14+246del (SCO2)	ENSP00000444433.1:n.-14+106_-14+246del
ENST00000638598.2:c.-153_-14+1del (SCO2)
ENST00000651490.1:c.92+106_93-82del (TYMP)
ENST00000652401.1:c.662_801+1del (TYMP)
ENST00000252029.7:c.1161_1300+1del (TYMP)
ENST00000395678.7:c.1161_1300+1del (TYMP)
ENST00000395680.5:c.1161_1300+1del (TYMP)
ENST00000395681.5:c.1176_1315+1del (TYMP)
ENST00000423348.1:c.-14+106_-14+246del	ENSP00000403570.1:n.-14+106_-14+246del
ENST00000425169.1:c.1062_1201+1del (TYMP)
ENST00000439934.5:c.-153_-14+1del
ENST00000476284.1:n.1271_1410+1del (TYMP)
ENST00000487577.5:n.1448_1587+1del (TYMP)
ENST00000535425.5:c.-153_-14+1del
ENST00000543927.5:c.-14+106_-14+246del	ENSP00000444433.1:n.-14+106_-14+246del
NM_001113755.2:c.1161_1300+1del (TYMP)
NM_001113756.2:c.1161_1300+1del (TYMP)
NM_001169109.1:c.-14+106_-14+246del (SCO2)	NP_001162580.1:n.-14+106_-14+246del
NM_001169110.1:c.-153_-14+1del (SCO2)
NM_001257988.1:c.1161_1300+1del , LRG_727t1:c.1161_1300+1del (TYMP)
NM_001257989.1:c.1176_1315+1del , LRG_727t2:c.1176_1315+1del (TYMP)
NM_001953.4:c.1161_1300+1del (TYMP)
NM_001113755.3:c.1161_1300+1del (TYMP)
NM_001113756.3:c.1161_1300+1del (TYMP)
NM_001953.5:c.1161_1300+1del (TYMP)
NM_001169109.2:c.-14+106_-14+246del (SCO2)	NP_001162580.1:n.-14+106_-14+246del