Canonical Allele Identifier: CA2839550672

Gene: TYMP

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526470del , CM000684.2:g.50526470del	GRCh38
NC_000022.10:g.50964899del , CM000684.1:g.50964899del	GRCh37
NC_000022.9:g.49311765del	NCBI36
NG_011860.1:g.8618del , LRG_727:g.8618del
NG_016235.1:g.4972del
NG_021419.1:g.23255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.937del MANE Select	ENSP00000252029.3:p.Leu313CysfsTer?
ENST00000395680.6:c.937del	ENSP00000379037.1:p.Leu313CysfsTer?
ENST00000395681.6:c.937del	ENSP00000379038.1:p.Leu313CysfsTer?
ENST00000650719.1:c.818del	ENSP00000498276.1:p.Pro273LeufsTer?
ENST00000651401.1:c.421del	ENSP00000499115.1:p.Leu141CysfsTer?
ENST00000652401.1:c.438del
ENST00000252029.7:c.937del	ENSP00000252029.3:p.Leu313CysfsTer?
ENST00000395678.7:c.937del	ENSP00000379036.3:p.Leu313CysfsTer?
ENST00000395680.5:c.937del	ENSP00000379037.1:p.Leu313CysfsTer?
ENST00000395681.5:c.937del	ENSP00000379038.1:p.Leu313CysfsTer?
ENST00000425169.1:c.838del	ENSP00000395875.1:p.Leu280CysfsTer?
ENST00000476284.1:n.943del
ENST00000487577.5:n.1224del
NM_001113755.2:c.937del	NP_001107227.1:p.Leu313CysfsTer?
NM_001113756.2:c.937del	NP_001107228.1:p.Leu313CysfsTer?
NM_001257988.1:c.937del , LRG_727t1:c.937del	NP_001244917.1:p.Leu313CysfsTer?
NM_001257989.1:c.937del , LRG_727t2:c.937del	NP_001244918.1:p.Leu313CysfsTer?
NM_001953.4:c.937del	NP_001944.1:p.Leu313CysfsTer?
NM_001113755.3:c.937del	NP_001107227.1:p.Leu313CysfsTer?
NM_001113756.3:c.937del	NP_001107228.1:p.Leu313CysfsTer?
NM_001953.5:c.937del MANE Select	NP_001944.1:p.Leu313CysfsTer?