Canonical Allele Identifier: CA10321850

Gene: TYMP

Linked Data

• ClinVar Variation Id: 342154
• ClinVar RCV Id: RCV000279377
• dbSNP Id: rs753466981
• ExAC: 22:50967917 CCA / C
• gnomAD v2: 22-50967917-CCA-C
• gnomAD v4: 22-50529488-CCA-C
• MyVariant Identifiers: chr22:g.50967918_50967919del (hg19) ; chr22:g.50529489_50529490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529490_50529491del , CM000684.2:g.50529490_50529491del	GRCh38
NC_000022.10:g.50967919_50967920del , CM000684.1:g.50967919_50967920del	GRCh37
NC_000022.9:g.49314785_49314786del	NCBI36
NG_011860.1:g.5596_5597del , LRG_727:g.5596_5597del
NG_016235.1:g.1950_1951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.214+6_214+7del MANE Select	ENSP00000252029.3:n.214+6_214+7del
ENST00000395680.6:c.214+6_214+7del	ENSP00000379037.1:n.214+6_214+7del
ENST00000395681.6:c.214+6_214+7del	ENSP00000379038.1:n.214+6_214+7del
ENST00000650719.1:c.214+6_214+7del	ENSP00000498276.1:n.214+6_214+7del
ENST00000651095.1:n.353+6_353+7del
ENST00000651196.1:c.214+6_214+7del	ENSP00000499096.1:n.214+6_214+7del
ENST00000651401.1:c.-1+414_-1+415del	ENSP00000499115.1:n.-1+414_-1+415del
ENST00000651906.1:n.333+6_333+7del
ENST00000652237.1:n.339_340del
ENST00000252029.7:c.214+6_214+7del	ENSP00000252029.3:n.214+6_214+7del
ENST00000395678.7:c.214+6_214+7del	ENSP00000379036.3:n.214+6_214+7del
ENST00000395680.5:c.214+6_214+7del	ENSP00000379037.1:n.214+6_214+7del
ENST00000395681.5:c.214+6_214+7del	ENSP00000379038.1:n.214+6_214+7del
ENST00000425169.1:c.214+6_214+7del	ENSP00000395875.1:n.214+6_214+7del
ENST00000476284.1:n.339+6_339+7del
ENST00000487162.1:n.351_352del
ENST00000487577.5:n.501+6_501+7del
NM_001113755.2:c.214+6_214+7del	NP_001107227.1:n.214+6_214+7del
NM_001113756.2:c.214+6_214+7del	NP_001107228.1:n.214+6_214+7del
NM_001257988.1:c.214+6_214+7del , LRG_727t1:c.214+6_214+7del	NP_001244917.1:n.214+6_214+7del
NM_001257989.1:c.214+6_214+7del , LRG_727t2:c.214+6_214+7del	NP_001244918.1:n.214+6_214+7del
NM_001953.4:c.214+6_214+7del	NP_001944.1:n.214+6_214+7del
NM_001113755.3:c.214+6_214+7del	NP_001107227.1:n.214+6_214+7del
NM_001113756.3:c.214+6_214+7del	NP_001107228.1:n.214+6_214+7del
NM_001953.5:c.214+6_214+7del MANE Select	NP_001944.1:n.214+6_214+7del