Canonical Allele Identifier: CA2580100049

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2004761
• ClinVar RCV Id: RCV002816330

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529622_50529629dup , CM000684.2:g.50529622_50529629dup	GRCh38
NC_000022.10:g.50968051_50968058dup , CM000684.1:g.50968051_50968058dup	GRCh37
NC_000022.9:g.49314917_49314924dup	NCBI36
NG_011860.1:g.5459_5466dup , LRG_727:g.5459_5466dup
NG_016235.1:g.1813_1820dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.83_90dup MANE Select	ENSP00000252029.3:p.Pro31ThrfsTer12
ENST00000395680.6:c.83_90dup	ENSP00000379037.1:p.Pro31ThrfsTer12
ENST00000395681.6:c.83_90dup	ENSP00000379038.1:p.Pro31ThrfsTer12
ENST00000650719.1:c.83_90dup	ENSP00000498276.1:p.Pro31ThrfsTer12
ENST00000651095.1:n.222_229dup
ENST00000651196.1:c.83_90dup	ENSP00000499096.1:p.Pro31ThrfsTer12
ENST00000651401.1:c.-1+277_-1+284dup	ENSP00000499115.1:n.-1+277_-1+284dup
ENST00000651906.1:n.202_209dup
ENST00000652237.1:n.202_209dup
ENST00000252029.7:c.83_90dup	ENSP00000252029.3:p.Pro31ThrfsTer12
ENST00000395678.7:c.83_90dup	ENSP00000379036.3:p.Pro31ThrfsTer12
ENST00000395680.5:c.83_90dup	ENSP00000379037.1:p.Pro31ThrfsTer12
ENST00000395681.5:c.83_90dup	ENSP00000379038.1:p.Pro31ThrfsTer12
ENST00000425169.1:c.83_90dup	ENSP00000395875.1:p.Pro31ThrfsTer12
ENST00000476284.1:n.208_215dup
ENST00000487162.1:n.214_221dup
ENST00000487577.5:n.370_377dup
NM_001113755.2:c.83_90dup	NP_001107227.1:p.Pro31ThrfsTer12
NM_001113756.2:c.83_90dup	NP_001107228.1:p.Pro31ThrfsTer12
NM_001257988.1:c.83_90dup , LRG_727t1:c.83_90dup	NP_001244917.1:p.Pro31ThrfsTer12
NM_001257989.1:c.83_90dup , LRG_727t2:c.83_90dup	NP_001244918.1:p.Pro31ThrfsTer12
NM_001953.4:c.83_90dup	NP_001944.1:p.Pro31ThrfsTer12
NM_001113755.3:c.83_90dup	NP_001107227.1:p.Pro31ThrfsTer12
NM_001113756.3:c.83_90dup	NP_001107228.1:p.Pro31ThrfsTer12
NM_001953.5:c.83_90dup MANE Select	NP_001944.1:p.Pro31ThrfsTer12