Canonical Allele Identifier: CA2580100002
Community Standard Title: NM_001953.5(TYMP):c.829dup (p.Leu277ProfsTer?)
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526678dup , CM000684.2:g.50526678dup GRCh38
NC_000022.10:g.50965107dup , CM000684.1:g.50965107dup GRCh37
NC_000022.9:g.49311973dup NCBI36
NG_011860.1:g.8411dup , LRG_727:g.8411dup
NG_016235.1:g.4765dup
NG_021419.1:g.23463dup

Transcript Alleles

HGVS Amino-acid Change
NM_001953.5:c.829dup MANE Select NP_001944.1:p.Leu277ProfsTer?
ENST00000252029.8:c.829dup MANE Select ENSP00000252029.3:p.Leu277ProfsTer?
NM_001113755.2:c.829dup NP_001107227.1:p.Leu277ProfsTer?
NM_001113755.3:c.829dup NP_001107227.1:p.Leu277ProfsTer?
NM_001113756.2:c.829dup NP_001107228.1:p.Leu277ProfsTer?
NM_001113756.3:c.829dup NP_001107228.1:p.Leu277ProfsTer?
NM_001257988.1:c.829dup , LRG_727t1:c.829dup NP_001244917.1:p.Leu277ProfsTer?
NM_001257989.1:c.829dup , LRG_727t2:c.829dup NP_001244918.1:p.Leu277ProfsTer?
NM_001953.4:c.829dup NP_001944.1:p.Leu277ProfsTer?
ENST00000252029.7:c.829dup ENSP00000252029.3:p.Leu277ProfsTer?
ENST00000395678.7:c.829dup ENSP00000379036.3:p.Leu277ProfsTer?
ENST00000395680.5:c.829dup ENSP00000379037.1:p.Leu277ProfsTer?
ENST00000395680.6:c.829dup ENSP00000379037.1:p.Leu277ProfsTer?
ENST00000395681.5:c.829dup ENSP00000379038.1:p.Leu277ProfsTer?
ENST00000395681.6:c.829dup ENSP00000379038.1:p.Leu277ProfsTer?
ENST00000425169.1:c.730dup ENSP00000395875.1:p.Leu244ProfsTer?
ENST00000476284.1:n.835dup
ENST00000487577.5:n.1116dup
ENST00000650719.1:c.710dup ENSP00000498276.1:p.Gly238TrpfsTer26
ENST00000651401.1:c.313dup ENSP00000499115.1:p.Leu105ProfsTer?
ENST00000652401.1:c.330dup