Canonical Allele Identifier: CA2657564335

Gene: TYMP SCO2

Linked Data

• gnomAD v4: 22-50526236-C-CGACGCTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526244_50526245insTGACGCTCA , CM000684.2:g.50526244_50526245insTGACGCTCA	GRCh38
NC_000022.10:g.50964673_50964674insTGACGCTCA , CM000684.1:g.50964673_50964674insTGACGCTCA	GRCh37
NC_000022.9:g.49311539_49311540insTGACGCTCA	NCBI36
NG_011860.1:g.8849_8850insATGAGCGTC , LRG_727:g.8849_8850insATGAGCGTC
NG_016235.1:g.5203_5204insATGAGCGTC
NG_021419.1:g.23029_23030insTGACGCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1159+9_1159+10insATGAGCGTC (TYMP) MANE Select	ENSP00000252029.3:n.1159+9_1159+10insATGA...
ENST00000395680.6:c.1159+9_1159+10insATGAGCGTC (TYMP)	ENSP00000379037.1:n.1159+9_1159+10insATGA...
ENST00000395681.6:c.1159+9_1159+10insATGAGCGTC (TYMP)	ENSP00000379038.1:n.1159+9_1159+10insATGA...
ENST00000543927.6:c.-14+9_-14+10insATGAGCGTC (SCO2)	ENSP00000444433.1:n.-14+9_-14+10insATGAGC...
ENST00000651490.1:c.92+9_92+10insATGAGCGTC (TYMP)
ENST00000652401.1:c.660+9_660+10insATGAGCGTC (TYMP)
ENST00000252029.7:c.1159+9_1159+10insATGAGCGTC (TYMP)	ENSP00000252029.3:n.1159+9_1159+10insATGA...
ENST00000395678.7:c.1159+9_1159+10insATGAGCGTC (TYMP)	ENSP00000379036.3:n.1159+9_1159+10insATGA...
ENST00000395680.5:c.1159+9_1159+10insATGAGCGTC (TYMP)	ENSP00000379037.1:n.1159+9_1159+10insATGA...
ENST00000395681.5:c.1159+9_1159+10insATGAGCGTC (TYMP)	ENSP00000379038.1:n.1159+9_1159+10insATGA...
ENST00000423348.1:c.-14+9_-14+10insATGAGCGTC	ENSP00000403570.1:n.-14+9_-14+10insATGAGC...
ENST00000425169.1:c.1060+9_1060+10insATGAGCGTC (TYMP)	ENSP00000395875.1:n.1060+9_1060+10insATGA...
ENST00000476284.1:n.1174_1175insATGAGCGTC (TYMP)
ENST00000487577.5:n.1446+9_1446+10insATGAGCGTC (TYMP)
ENST00000543927.5:c.-14+9_-14+10insATGAGCGTC	ENSP00000444433.1:n.-14+9_-14+10insATGAGC...
NM_001113755.2:c.1159+9_1159+10insATGAGCGTC (TYMP)	NP_001107227.1:n.1159+9_1159+10insATGAGCG...
NM_001113756.2:c.1159+9_1159+10insATGAGCGTC (TYMP)	NP_001107228.1:n.1159+9_1159+10insATGAGCG...
NM_001169109.1:c.-14+9_-14+10insATGAGCGTC (SCO2)	NP_001162580.1:n.-14+9_-14+10insATGAGCGTC...
NM_001257988.1:c.1159+9_1159+10insATGAGCGTC , LRG_727t1:c.1159+9_1159+10insATGAGCGTC (TYMP)	NP_001244917.1:n.1159+9_1159+10insATGAGCG...
NM_001257989.1:c.1159+9_1159+10insATGAGCGTC , LRG_727t2:c.1159+9_1159+10insATGAGCGTC (TYMP)	NP_001244918.1:n.1159+9_1159+10insATGAGCG...
NM_001953.4:c.1159+9_1159+10insATGAGCGTC (TYMP)	NP_001944.1:n.1159+9_1159+10insATGAGCGTC
NM_001113755.3:c.1159+9_1159+10insATGAGCGTC (TYMP)	NP_001107227.1:n.1159+9_1159+10insATGAGCG...
NM_001113756.3:c.1159+9_1159+10insATGAGCGTC (TYMP)	NP_001107228.1:n.1159+9_1159+10insATGAGCG...
NM_001953.5:c.1159+9_1159+10insATGAGCGTC (TYMP) MANE Select	NP_001944.1:n.1159+9_1159+10insATGAGCGTC
NM_001169109.2:c.-14+9_-14+10insATGAGCGTC (SCO2)	NP_001162580.1:n.-14+9_-14+10insATGAGCGTC...