Canonical Allele Identifier: CA2657568534

Gene: TYMP

Linked Data

• gnomAD v4: 22-50529532-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529534del , CM000684.2:g.50529534del	GRCh38
NC_000022.10:g.50967963del , CM000684.1:g.50967963del	GRCh37
NC_000022.9:g.49314829del	NCBI36
NG_011860.1:g.5553del , LRG_727:g.5553del
NG_016235.1:g.1907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.177del MANE Select	ENSP00000252029.3:p.Ala60LeufsTer3
ENST00000395680.6:c.177del	ENSP00000379037.1:p.Ala60LeufsTer3
ENST00000395681.6:c.177del	ENSP00000379038.1:p.Ala60LeufsTer3
ENST00000650719.1:c.177del	ENSP00000498276.1:p.Ala60LeufsTer3
ENST00000651095.1:n.316del
ENST00000651196.1:c.177del	ENSP00000499096.1:p.Ala60LeufsTer3
ENST00000651401.1:c.-1+371del	ENSP00000499115.1:n.-1+371del
ENST00000651906.1:n.296del
ENST00000652237.1:n.296del
ENST00000252029.7:c.177del	ENSP00000252029.3:p.Ala60LeufsTer3
ENST00000395678.7:c.177del	ENSP00000379036.3:p.Ala60LeufsTer3
ENST00000395680.5:c.177del	ENSP00000379037.1:p.Ala60LeufsTer3
ENST00000395681.5:c.177del	ENSP00000379038.1:p.Ala60LeufsTer3
ENST00000425169.1:c.177del	ENSP00000395875.1:p.Ala60LeufsTer3
ENST00000476284.1:n.302del
ENST00000487162.1:n.308del
ENST00000487577.5:n.464del
NM_001113755.2:c.177del	NP_001107227.1:p.Ala60LeufsTer3
NM_001113756.2:c.177del	NP_001107228.1:p.Ala60LeufsTer3
NM_001257988.1:c.177del , LRG_727t1:c.177del	NP_001244917.1:p.Ala60LeufsTer3
NM_001257989.1:c.177del , LRG_727t2:c.177del	NP_001244918.1:p.Ala60LeufsTer3
NM_001953.4:c.177del	NP_001944.1:p.Ala60LeufsTer3
NM_001113755.3:c.177del	NP_001107227.1:p.Ala60LeufsTer3
NM_001113756.3:c.177del	NP_001107228.1:p.Ala60LeufsTer3
NM_001953.5:c.177del MANE Select	NP_001944.1:p.Ala60LeufsTer3