Canonical Allele Identifier: CA325561268

Gene: TYMP

Linked Data

• dbSNP Id: rs1007453852
• MyVariant Identifiers: chr22:g.50965094_50965095insA (hg19) ; chr22:g.50526665_50526666insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526666dup , CM000684.2:g.50526666dup	GRCh38
NC_000022.10:g.50965095dup , CM000684.1:g.50965095dup	GRCh37
NC_000022.9:g.49311961dup	NCBI36
NG_011860.1:g.8420dup , LRG_727:g.8420dup
NG_016235.1:g.4774dup
NG_021419.1:g.23451dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.838dup MANE Select	ENSP00000252029.3:p.Cys280LeufsTer?
ENST00000395680.6:c.838dup	ENSP00000379037.1:p.Cys280LeufsTer?
ENST00000395681.6:c.838dup	ENSP00000379038.1:p.Cys280LeufsTer?
ENST00000650719.1:c.719dup	ENSP00000498276.1:p.Arg241AlafsTer23
ENST00000651401.1:c.322dup	ENSP00000499115.1:p.Cys108LeufsTer?
ENST00000652401.1:c.339dup
ENST00000252029.7:c.838dup	ENSP00000252029.3:p.Cys280LeufsTer?
ENST00000395678.7:c.838dup	ENSP00000379036.3:p.Cys280LeufsTer?
ENST00000395680.5:c.838dup	ENSP00000379037.1:p.Cys280LeufsTer?
ENST00000395681.5:c.838dup	ENSP00000379038.1:p.Cys280LeufsTer?
ENST00000425169.1:c.739dup	ENSP00000395875.1:p.Cys247LeufsTer?
ENST00000476284.1:n.844dup
ENST00000487577.5:n.1125dup
NM_001113755.2:c.838dup	NP_001107227.1:p.Cys280LeufsTer?
NM_001113756.2:c.838dup	NP_001107228.1:p.Cys280LeufsTer?
NM_001257988.1:c.838dup , LRG_727t1:c.838dup	NP_001244917.1:p.Cys280LeufsTer?
NM_001257989.1:c.838dup , LRG_727t2:c.838dup	NP_001244918.1:p.Cys280LeufsTer?
NM_001953.4:c.838dup	NP_001944.1:p.Cys280LeufsTer?
NM_001113755.3:c.838dup	NP_001107227.1:p.Cys280LeufsTer?
NM_001113756.3:c.838dup	NP_001107228.1:p.Cys280LeufsTer?
NM_001953.5:c.838dup MANE Select	NP_001944.1:p.Cys280LeufsTer?