Canonical Allele Identifier: CA2580100036

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2030165
• ClinVar RCV Id: RCV002894338

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529323del , CM000684.2:g.50529323del	GRCh38
NC_000022.10:g.50967752del , CM000684.1:g.50967752del	GRCh37
NC_000022.9:g.49314618del	NCBI36
NG_011860.1:g.5764del , LRG_727:g.5764del
NG_016235.1:g.2118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.231del MANE Select	ENSP00000252029.3:p.Ile78SerfsTer14
ENST00000395680.6:c.231del	ENSP00000379037.1:p.Ile78SerfsTer14
ENST00000395681.6:c.231del	ENSP00000379038.1:p.Ile78SerfsTer14
ENST00000650719.1:c.231del	ENSP00000498276.1:p.Ile78SerfsTer14
ENST00000651095.1:n.370del
ENST00000651196.1:c.231del	ENSP00000499096.1:p.Ile78SerfsTer14
ENST00000651401.1:c.-1+582del	ENSP00000499115.1:n.-1+582del
ENST00000651906.1:n.350del
ENST00000652237.1:n.507del
ENST00000252029.7:c.231del	ENSP00000252029.3:p.Ile78SerfsTer14
ENST00000395678.7:c.231del	ENSP00000379036.3:p.Ile78SerfsTer14
ENST00000395680.5:c.231del	ENSP00000379037.1:p.Ile78SerfsTer14
ENST00000395681.5:c.231del	ENSP00000379038.1:p.Ile78SerfsTer14
ENST00000425169.1:c.231del	ENSP00000395875.1:p.Ile78SerfsTer14
ENST00000476284.1:n.356del
ENST00000487162.1:n.519del
ENST00000487577.5:n.518del
NM_001113755.2:c.231del	NP_001107227.1:p.Ile78SerfsTer14
NM_001113756.2:c.231del	NP_001107228.1:p.Ile78SerfsTer14
NM_001257988.1:c.231del , LRG_727t1:c.231del	NP_001244917.1:p.Ile78SerfsTer14
NM_001257989.1:c.231del , LRG_727t2:c.231del	NP_001244918.1:p.Ile78SerfsTer14
NM_001953.4:c.231del	NP_001944.1:p.Ile78SerfsTer14
NM_001113755.3:c.231del	NP_001107227.1:p.Ile78SerfsTer14
NM_001113756.3:c.231del	NP_001107228.1:p.Ile78SerfsTer14
NM_001953.5:c.231del MANE Select	NP_001944.1:p.Ile78SerfsTer14