Canonical Allele Identifier: CA2657567739

Gene: TYMP

Linked Data

• gnomAD v4: 22-50529218-AGCTGCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529221_50529227del , CM000684.2:g.50529221_50529227del	GRCh38
NC_000022.10:g.50967650_50967656del , CM000684.1:g.50967650_50967656del	GRCh37
NC_000022.9:g.49314516_49314522del	NCBI36
NG_011860.1:g.5861_5867del , LRG_727:g.5861_5867del
NG_016235.1:g.2215_2221del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.328_334del MANE Select	ENSP00000252029.3:p.Gln110LeufsTer?
ENST00000395680.6:c.328_334del	ENSP00000379037.1:p.Gln110LeufsTer?
ENST00000395681.6:c.328_334del	ENSP00000379038.1:p.Gln110LeufsTer?
ENST00000650719.1:c.328_334del	ENSP00000498276.1:p.Gln110LeufsTer?
ENST00000651095.1:n.467_473del
ENST00000651196.1:c.328_334del	ENSP00000499096.1:p.Gln110LeufsTer?
ENST00000651401.1:c.-1+679_-1+685del	ENSP00000499115.1:n.-1+679_-1+685del
ENST00000651906.1:n.447_453del
ENST00000652237.1:n.604_610del
ENST00000652352.1:c.76_82del	ENSP00000498579.1:p.Gln26LeufsTer?
ENST00000252029.7:c.328_334del	ENSP00000252029.3:p.Gln110LeufsTer?
ENST00000395678.7:c.328_334del	ENSP00000379036.3:p.Gln110LeufsTer?
ENST00000395680.5:c.328_334del	ENSP00000379037.1:p.Gln110LeufsTer?
ENST00000395681.5:c.328_334del	ENSP00000379038.1:p.Gln110LeufsTer?
ENST00000425169.1:c.328_334del	ENSP00000395875.1:p.Gln110LeufsTer?
ENST00000476284.1:n.453_459del
ENST00000487162.1:n.616_622del
ENST00000487577.5:n.615_621del
NM_001113755.2:c.328_334del	NP_001107227.1:p.Gln110LeufsTer?
NM_001113756.2:c.328_334del	NP_001107228.1:p.Gln110LeufsTer?
NM_001257988.1:c.328_334del , LRG_727t1:c.328_334del	NP_001244917.1:p.Gln110LeufsTer?
NM_001257989.1:c.328_334del , LRG_727t2:c.328_334del	NP_001244918.1:p.Gln110LeufsTer?
NM_001953.4:c.328_334del	NP_001944.1:p.Gln110LeufsTer?
NM_001113755.3:c.328_334del	NP_001107227.1:p.Gln110LeufsTer?
NM_001113756.3:c.328_334del	NP_001107228.1:p.Gln110LeufsTer?
NM_001953.5:c.328_334del MANE Select	NP_001944.1:p.Gln110LeufsTer?