Canonical Allele Identifier: CA2657567352

Gene: TYMP

Linked Data

• gnomAD v4: 22-50529070-CTGTGGATGGACTGGTTGCTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529075_50529096del , CM000684.2:g.50529075_50529096del	GRCh38
NC_000022.10:g.50967504_50967525del , CM000684.1:g.50967504_50967525del	GRCh37
NC_000022.9:g.49314370_49314391del	NCBI36
NG_011860.1:g.5994_6015del , LRG_727:g.5994_6015del
NG_016235.1:g.2348_2369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.417+44_417+65del MANE Select	ENSP00000252029.3:n.417+44_417+65del
ENST00000395680.6:c.417+44_417+65del	ENSP00000379037.1:n.417+44_417+65del
ENST00000395681.6:c.417+44_417+65del	ENSP00000379038.1:n.417+44_417+65del
ENST00000650719.1:c.417+44_417+65del	ENSP00000498276.1:n.417+44_417+65del
ENST00000651095.1:n.600_621del
ENST00000651401.1:c.-1+812_-1+833del	ENSP00000499115.1:n.-1+812_-1+833del
ENST00000651906.1:n.536+44_536+65del
ENST00000652237.1:n.737_758del
ENST00000652352.1:c.165+44_165+65del	ENSP00000498579.1:n.165+44_165+65del
ENST00000252029.7:c.417+44_417+65del	ENSP00000252029.3:n.417+44_417+65del
ENST00000395678.7:c.417+44_417+65del	ENSP00000379036.3:n.417+44_417+65del
ENST00000395680.5:c.417+44_417+65del	ENSP00000379037.1:n.417+44_417+65del
ENST00000395681.5:c.417+44_417+65del	ENSP00000379038.1:n.417+44_417+65del
ENST00000425169.1:c.417+44_417+65del	ENSP00000395875.1:n.417+44_417+65del
ENST00000476284.1:n.542+44_542+65del
ENST00000487162.1:n.749_770del
ENST00000487577.5:n.704+44_704+65del
NM_001113755.2:c.417+44_417+65del	NP_001107227.1:n.417+44_417+65del
NM_001113756.2:c.417+44_417+65del	NP_001107228.1:n.417+44_417+65del
NM_001257988.1:c.417+44_417+65del , LRG_727t1:c.417+44_417+65del	NP_001244917.1:n.417+44_417+65del
NM_001257989.1:c.417+44_417+65del , LRG_727t2:c.417+44_417+65del	NP_001244918.1:n.417+44_417+65del
NM_001953.4:c.417+44_417+65del	NP_001944.1:n.417+44_417+65del
NM_001113755.3:c.417+44_417+65del	NP_001107227.1:n.417+44_417+65del
NM_001113756.3:c.417+44_417+65del	NP_001107228.1:n.417+44_417+65del
NM_001953.5:c.417+44_417+65del MANE Select	NP_001944.1:n.417+44_417+65del