Canonical Allele Identifier: CA2657566253

Gene: TYMP

Linked Data

• gnomAD v4: 22-50527215-CCCCTCCGAACTTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50527217_50527230del , CM000684.2:g.50527217_50527230del	GRCh38
NC_000022.10:g.50965646_50965659del , CM000684.1:g.50965646_50965659del	GRCh37
NC_000022.9:g.49312512_49312525del	NCBI36
NG_011860.1:g.7857_7870del , LRG_727:g.7857_7870del
NG_016235.1:g.4211_4224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.701_714del MANE Select	ENSP00000252029.3:p.Val234GlyfsTer?
ENST00000395680.6:c.701_714del	ENSP00000379037.1:p.Val234GlyfsTer?
ENST00000395681.6:c.701_714del	ENSP00000379038.1:p.Val234GlyfsTer?
ENST00000650719.1:c.646+359_646+372del	ENSP00000498276.1:n.646+359_646+372del
ENST00000651401.1:c.185_198del	ENSP00000499115.1:p.Val62GlyfsTer?
ENST00000651906.1:n.1124_1137del
ENST00000652352.1:c.412_425del	ENSP00000498579.1:n.412_425del
ENST00000652401.1:c.202_215del
ENST00000252029.7:c.701_714del	ENSP00000252029.3:p.Val234GlyfsTer?
ENST00000395678.7:c.701_714del	ENSP00000379036.3:p.Val234GlyfsTer?
ENST00000395680.5:c.701_714del	ENSP00000379037.1:p.Val234GlyfsTer?
ENST00000395681.5:c.701_714del	ENSP00000379038.1:p.Val234GlyfsTer?
ENST00000425169.1:c.602_615del	ENSP00000395875.1:p.Val201GlyfsTer?
ENST00000476284.1:n.771+359_771+372del
ENST00000487577.5:n.988_1001del
NM_001113755.2:c.701_714del	NP_001107227.1:p.Val234GlyfsTer?
NM_001113756.2:c.701_714del	NP_001107228.1:p.Val234GlyfsTer?
NM_001257988.1:c.701_714del , LRG_727t1:c.701_714del	NP_001244917.1:p.Val234GlyfsTer?
NM_001257989.1:c.701_714del , LRG_727t2:c.701_714del	NP_001244918.1:p.Val234GlyfsTer?
NM_001953.4:c.701_714del	NP_001944.1:p.Val234GlyfsTer?
NM_001113755.3:c.701_714del	NP_001107227.1:p.Val234GlyfsTer?
NM_001113756.3:c.701_714del	NP_001107228.1:p.Val234GlyfsTer?
NM_001953.5:c.701_714del MANE Select	NP_001944.1:p.Val234GlyfsTer?