Canonical Allele Identifier: CA2580100041

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2087234
• ClinVar RCV Id: RCV003009460

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529563_50529582del , CM000684.2:g.50529563_50529582del	GRCh38
NC_000022.10:g.50967992_50968011del , CM000684.1:g.50967992_50968011del	GRCh37
NC_000022.9:g.49314858_49314877del	NCBI36
NG_011860.1:g.5509_5528del , LRG_727:g.5509_5528del
NG_016235.1:g.1863_1882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.133_152del MANE Select	ENSP00000252029.3:p.Asp45SerfsTer?
ENST00000395680.6:c.133_152del	ENSP00000379037.1:p.Asp45SerfsTer?
ENST00000395681.6:c.133_152del	ENSP00000379038.1:p.Asp45SerfsTer?
ENST00000650719.1:c.133_152del	ENSP00000498276.1:p.Asp45SerfsTer?
ENST00000651095.1:n.272_291del
ENST00000651196.1:c.133_152del	ENSP00000499096.1:p.Asp45SerfsTer?
ENST00000651401.1:c.-1+327_-1+346del	ENSP00000499115.1:n.-1+327_-1+346del
ENST00000651906.1:n.252_271del
ENST00000652237.1:n.252_271del
ENST00000252029.7:c.133_152del	ENSP00000252029.3:p.Asp45SerfsTer?
ENST00000395678.7:c.133_152del	ENSP00000379036.3:p.Asp45SerfsTer?
ENST00000395680.5:c.133_152del	ENSP00000379037.1:p.Asp45SerfsTer?
ENST00000395681.5:c.133_152del	ENSP00000379038.1:p.Asp45SerfsTer?
ENST00000425169.1:c.133_152del	ENSP00000395875.1:p.Asp45SerfsTer?
ENST00000476284.1:n.258_277del
ENST00000487162.1:n.264_283del
ENST00000487577.5:n.420_439del
NM_001113755.2:c.133_152del	NP_001107227.1:p.Asp45SerfsTer?
NM_001113756.2:c.133_152del	NP_001107228.1:p.Asp45SerfsTer?
NM_001257988.1:c.133_152del , LRG_727t1:c.133_152del	NP_001244917.1:p.Asp45SerfsTer?
NM_001257989.1:c.133_152del , LRG_727t2:c.133_152del	NP_001244918.1:p.Asp45SerfsTer?
NM_001953.4:c.133_152del	NP_001944.1:p.Asp45SerfsTer?
NM_001113755.3:c.133_152del	NP_001107227.1:p.Asp45SerfsTer?
NM_001113756.3:c.133_152del	NP_001107228.1:p.Asp45SerfsTer?
NM_001953.5:c.133_152del MANE Select	NP_001944.1:p.Asp45SerfsTer?