Canonical Allele Identifier: CA2499226237
Community Standard Title: NM_001953.5(TYMP):c.20del (p.Pro7ArgfsTer?)
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529693del , CM000684.2:g.50529693del GRCh38
NC_000022.10:g.50968122del , CM000684.1:g.50968122del GRCh37
NC_000022.9:g.49314988del NCBI36
NG_011860.1:g.5396del , LRG_727:g.5396del
NG_016235.1:g.1750del

Transcript Alleles

HGVS Amino-acid Change
NM_001953.5:c.20del MANE Select NP_001944.1:p.Pro7ArgfsTer?
ENST00000252029.8:c.20del MANE Select ENSP00000252029.3:p.Pro7ArgfsTer?
NM_001113755.2:c.20del NP_001107227.1:p.Pro7ArgfsTer?
NM_001113755.3:c.20del NP_001107227.1:p.Pro7ArgfsTer?
NM_001113756.2:c.20del NP_001107228.1:p.Pro7ArgfsTer?
NM_001113756.3:c.20del NP_001107228.1:p.Pro7ArgfsTer?
NM_001257988.1:c.20del , LRG_727t1:c.20del NP_001244917.1:p.Pro7ArgfsTer?
NM_001257989.1:c.20del , LRG_727t2:c.20del NP_001244918.1:p.Pro7ArgfsTer?
NM_001953.4:c.20del NP_001944.1:p.Pro7ArgfsTer?
ENST00000252029.7:c.20del ENSP00000252029.3:p.Pro7ArgfsTer?
ENST00000395678.7:c.20del ENSP00000379036.3:p.Pro7ArgfsTer?
ENST00000395680.5:c.20del ENSP00000379037.1:p.Pro7ArgfsTer?
ENST00000395680.6:c.20del ENSP00000379037.1:p.Pro7ArgfsTer?
ENST00000395681.5:c.20del ENSP00000379038.1:p.Pro7ArgfsTer?
ENST00000395681.6:c.20del ENSP00000379038.1:p.Pro7ArgfsTer?
ENST00000425169.1:c.20del ENSP00000395875.1:p.Pro7ArgfsTer?
ENST00000476284.1:n.145del
ENST00000487162.1:n.151del
ENST00000487577.5:n.307del
ENST00000650719.1:c.20del ENSP00000498276.1:p.Pro7ArgfsTer?
ENST00000651095.1:n.159del
ENST00000651196.1:c.20del ENSP00000499096.1:p.Pro7ArgfsTer?
ENST00000651401.1:c.-1+214del ENSP00000499115.1:n.-1+214del
ENST00000651906.1:n.139del
ENST00000652237.1:n.139del