Canonical Allele Identifier: CA2819315479

Gene: TYMP

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529293_50529317del , CM000684.2:g.50529293_50529317del	GRCh38
NC_000022.10:g.50967722_50967746del , CM000684.1:g.50967722_50967746del	GRCh37
NC_000022.9:g.49314588_49314612del	NCBI36
NG_011860.1:g.5772_5796del , LRG_727:g.5772_5796del
NG_016235.1:g.2126_2150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.239_263del MANE Select	ENSP00000252029.3:p.Leu80ProfsTer4
ENST00000395680.6:c.239_263del	ENSP00000379037.1:p.Leu80ProfsTer4
ENST00000395681.6:c.239_263del	ENSP00000379038.1:p.Leu80ProfsTer4
ENST00000650719.1:c.239_263del	ENSP00000498276.1:p.Leu80ProfsTer4
ENST00000651095.1:n.378_402del
ENST00000651196.1:c.239_263del	ENSP00000499096.1:p.Leu80ProfsTer4
ENST00000651401.1:c.-1+590_-1+614del	ENSP00000499115.1:n.-1+590_-1+614del
ENST00000651906.1:n.358_382del
ENST00000652237.1:n.515_539del
ENST00000252029.7:c.239_263del	ENSP00000252029.3:p.Leu80ProfsTer4
ENST00000395678.7:c.239_263del	ENSP00000379036.3:p.Leu80ProfsTer4
ENST00000395680.5:c.239_263del	ENSP00000379037.1:p.Leu80ProfsTer4
ENST00000395681.5:c.239_263del	ENSP00000379038.1:p.Leu80ProfsTer4
ENST00000425169.1:c.239_263del	ENSP00000395875.1:p.Leu80ProfsTer4
ENST00000476284.1:n.364_388del
ENST00000487162.1:n.527_551del
ENST00000487577.5:n.526_550del
NM_001113755.2:c.239_263del	NP_001107227.1:p.Leu80ProfsTer4
NM_001113756.2:c.239_263del	NP_001107228.1:p.Leu80ProfsTer4
NM_001257988.1:c.239_263del , LRG_727t1:c.239_263del	NP_001244917.1:p.Leu80ProfsTer4
NM_001257989.1:c.239_263del , LRG_727t2:c.239_263del	NP_001244918.1:p.Leu80ProfsTer4
NM_001953.4:c.239_263del	NP_001944.1:p.Leu80ProfsTer4
NM_001113755.3:c.239_263del	NP_001107227.1:p.Leu80ProfsTer4
NM_001113756.3:c.239_263del	NP_001107228.1:p.Leu80ProfsTer4
NM_001953.5:c.239_263del MANE Select	NP_001944.1:p.Leu80ProfsTer4