Canonical Allele Identifier: CA324652

Gene: TYMP

Linked Data

• ClinVar Variation Id: 215324
• ClinVar RCV Id: RCV000200098 ; RCV000374728 ; RCV000293978 ; RCV000404575 ; RCV000224802 ; RCV001272325
• dbSNP Id: rs201685922
• ExAC: 22:50964907 TGCGG / T
• gnomAD v2: 22-50964907-TGCGG-T
• gnomAD v3: 22-50526478-TGCGG-T
• gnomAD v4: 22-50526478-TGCGG-T
• MyVariant Identifiers: chr22:g.50964908_50964911del (hg19) ; chr22:g.50526480_50526483del (hg38) ; chr22:g.50526479_50526482del (hg38)
• PubMed: PMID:10852545 ; PMID:20301358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526484_50526487del , CM000684.2:g.50526484_50526487del	GRCh38
NC_000022.10:g.50964913_50964916del , CM000684.1:g.50964913_50964916del	GRCh37
NC_000022.9:g.49311779_49311782del	NCBI36
NG_011860.1:g.8604_8607del , LRG_727:g.8604_8607del
NG_016235.1:g.4958_4961del
NG_021419.1:g.23269_23272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.929-6_929-3del MANE Select	ENSP00000252029.3:n.929-6_929-3del
ENST00000395680.6:c.929-6_929-3del	ENSP00000379037.1:n.929-6_929-3del
ENST00000395681.6:c.929-6_929-3del	ENSP00000379038.1:n.929-6_929-3del
ENST00000650719.1:c.810-6_810-3del	ENSP00000498276.1:n.810-6_810-3del
ENST00000651401.1:c.413-6_413-3del	ENSP00000499115.1:n.413-6_413-3del
ENST00000652401.1:c.430-6_430-3del
ENST00000252029.7:c.929-6_929-3del	ENSP00000252029.3:n.929-6_929-3del
ENST00000395678.7:c.929-6_929-3del	ENSP00000379036.3:n.929-6_929-3del
ENST00000395680.5:c.929-6_929-3del	ENSP00000379037.1:n.929-6_929-3del
ENST00000395681.5:c.929-6_929-3del	ENSP00000379038.1:n.929-6_929-3del
ENST00000425169.1:c.830-6_830-3del	ENSP00000395875.1:n.830-6_830-3del
ENST00000476284.1:n.935-6_935-3del
ENST00000487577.5:n.1216-6_1216-3del
NM_001113755.2:c.929-6_929-3del	NP_001107227.1:n.929-6_929-3del
NM_001113756.2:c.929-6_929-3del	NP_001107228.1:n.929-6_929-3del
NM_001257988.1:c.929-6_929-3del , LRG_727t1:c.929-6_929-3del	NP_001244917.1:n.929-6_929-3del
NM_001257989.1:c.929-6_929-3del , LRG_727t2:c.929-6_929-3del	NP_001244918.1:n.929-6_929-3del
NM_001953.4:c.929-6_929-3del	NP_001944.1:n.929-6_929-3del
NM_001113755.3:c.929-6_929-3del	NP_001107227.1:n.929-6_929-3del
NM_001113756.3:c.929-6_929-3del	NP_001107228.1:n.929-6_929-3del
NM_001953.5:c.929-6_929-3del MANE Select	NP_001944.1:n.929-6_929-3del