Canonical Allele Identifier: CA2410907737

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526242_50526243delinsTC , CM000684.2:g.50526242_50526243delinsTC	GRCh38
NC_000022.10:g.50964671_50964672delinsTC , CM000684.1:g.50964671_50964672delinsTC	GRCh37
NC_000022.9:g.49311537_49311538delinsTC	NCBI36
NG_011860.1:g.8843_8844delinsGA , LRG_727:g.8843_8844delinsGA
NG_016235.1:g.5197_5198delinsGA
NG_021419.1:g.23027_23028delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1159+3_1159+4delinsGA (TYMP) MANE Select	ENSP00000252029.3:n.1159+3_1159+4delinsGA...
ENST00000395680.6:c.1159+3_1159+4delinsGA (TYMP)	ENSP00000379037.1:n.1159+3_1159+4delinsGA...
ENST00000395681.6:c.1159+3_1159+4delinsGA (TYMP)	ENSP00000379038.1:n.1159+3_1159+4delinsGA...
ENST00000543927.6:c.-14+3_-14+4delinsGA (SCO2)	ENSP00000444433.1:n.-14+3_-14+4delinsGA
ENST00000651490.1:c.92+3_92+4delinsGA (TYMP)
ENST00000652401.1:c.660+3_660+4delinsGA (TYMP)
ENST00000252029.7:c.1159+3_1159+4delinsGA (TYMP)	ENSP00000252029.3:n.1159+3_1159+4delinsGA...
ENST00000395678.7:c.1159+3_1159+4delinsGA (TYMP)	ENSP00000379036.3:n.1159+3_1159+4delinsGA...
ENST00000395680.5:c.1159+3_1159+4delinsGA (TYMP)	ENSP00000379037.1:n.1159+3_1159+4delinsGA...
ENST00000395681.5:c.1159+3_1159+4delinsGA (TYMP)	ENSP00000379038.1:n.1159+3_1159+4delinsGA...
ENST00000423348.1:c.-14+3_-14+4delinsGA	ENSP00000403570.1:n.-14+3_-14+4delinsGA
ENST00000425169.1:c.1060+3_1060+4delinsGA (TYMP)	ENSP00000395875.1:n.1060+3_1060+4delinsGA...
ENST00000476284.1:n.1168_1169delinsGA (TYMP)
ENST00000487577.5:n.1446+3_1446+4delinsGA (TYMP)
ENST00000543927.5:c.-14+3_-14+4delinsGA	ENSP00000444433.1:n.-14+3_-14+4delinsGA
NM_001113755.2:c.1159+3_1159+4delinsGA (TYMP)	NP_001107227.1:n.1159+3_1159+4delinsGA
NM_001113756.2:c.1159+3_1159+4delinsGA (TYMP)	NP_001107228.1:n.1159+3_1159+4delinsGA
NM_001169109.1:c.-14+3_-14+4delinsGA (SCO2)	NP_001162580.1:n.-14+3_-14+4delinsGA
NM_001257988.1:c.1159+3_1159+4delinsGA , LRG_727t1:c.1159+3_1159+4delinsGA (TYMP)	NP_001244917.1:n.1159+3_1159+4delinsGA
NM_001257989.1:c.1159+3_1159+4delinsGA , LRG_727t2:c.1159+3_1159+4delinsGA (TYMP)	NP_001244918.1:n.1159+3_1159+4delinsGA
NM_001953.4:c.1159+3_1159+4delinsGA (TYMP)	NP_001944.1:n.1159+3_1159+4delinsGA
NM_001113755.3:c.1159+3_1159+4delinsGA (TYMP)	NP_001107227.1:n.1159+3_1159+4delinsGA
NM_001113756.3:c.1159+3_1159+4delinsGA (TYMP)	NP_001107228.1:n.1159+3_1159+4delinsGA
NM_001953.5:c.1159+3_1159+4delinsGA (TYMP) MANE Select	NP_001944.1:n.1159+3_1159+4delinsGA
NM_001169109.2:c.-14+3_-14+4delinsGA (SCO2)	NP_001162580.1:n.-14+3_-14+4delinsGA