Canonical Allele Identifier: CA640357487

Gene: TYMP

Linked Data

• dbSNP Id: rs1342816643
• gnomAD v2: 22-50967870-TCTCTCGGGCTGAC-T
• gnomAD v3: 22-50529441-TCTCTCGGGCTGAC-T
• gnomAD v4: 22-50529441-TCTCTCGGGCTGAC-T
• MyVariant Identifiers: chr22:g.50967871_50967883del (hg19) ; chr22:g.50529442_50529454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529445_50529457del , CM000684.2:g.50529445_50529457del	GRCh38
NC_000022.10:g.50967874_50967886del , CM000684.1:g.50967874_50967886del	GRCh37
NC_000022.9:g.49314740_49314752del	NCBI36
NG_011860.1:g.5632_5644del , LRG_727:g.5632_5644del
NG_016235.1:g.1986_1998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.214+42_214+54del MANE Select	ENSP00000252029.3:n.214+42_214+54del
ENST00000395680.6:c.214+42_214+54del	ENSP00000379037.1:n.214+42_214+54del
ENST00000395681.6:c.214+42_214+54del	ENSP00000379038.1:n.214+42_214+54del
ENST00000650719.1:c.214+42_214+54del	ENSP00000498276.1:n.214+42_214+54del
ENST00000651095.1:n.353+42_353+54del
ENST00000651196.1:c.214+42_214+54del	ENSP00000499096.1:n.214+42_214+54del
ENST00000651401.1:c.-1+450_-1+462del	ENSP00000499115.1:n.-1+450_-1+462del
ENST00000651906.1:n.333+42_333+54del
ENST00000652237.1:n.375_387del
ENST00000252029.7:c.214+42_214+54del	ENSP00000252029.3:n.214+42_214+54del
ENST00000395678.7:c.214+42_214+54del	ENSP00000379036.3:n.214+42_214+54del
ENST00000395680.5:c.214+42_214+54del	ENSP00000379037.1:n.214+42_214+54del
ENST00000395681.5:c.214+42_214+54del	ENSP00000379038.1:n.214+42_214+54del
ENST00000425169.1:c.214+42_214+54del	ENSP00000395875.1:n.214+42_214+54del
ENST00000476284.1:n.339+42_339+54del
ENST00000487162.1:n.387_399del
ENST00000487577.5:n.501+42_501+54del
NM_001113755.2:c.214+42_214+54del	NP_001107227.1:n.214+42_214+54del
NM_001113756.2:c.214+42_214+54del	NP_001107228.1:n.214+42_214+54del
NM_001257988.1:c.214+42_214+54del , LRG_727t1:c.214+42_214+54del	NP_001244917.1:n.214+42_214+54del
NM_001257989.1:c.214+42_214+54del , LRG_727t2:c.214+42_214+54del	NP_001244918.1:n.214+42_214+54del
NM_001953.4:c.214+42_214+54del	NP_001944.1:n.214+42_214+54del
NM_001113755.3:c.214+42_214+54del	NP_001107227.1:n.214+42_214+54del
NM_001113756.3:c.214+42_214+54del	NP_001107228.1:n.214+42_214+54del
NM_001953.5:c.214+42_214+54del MANE Select	NP_001944.1:n.214+42_214+54del