Canonical Allele Identifier: CA1139667174

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 870753
• ClinVar RCV Id: RCV001090364
• dbSNP Id: rs2069377278
• gnomAD v4: 22-50526378-AGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526386_50526416del , CM000684.2:g.50526386_50526416del	GRCh38
NC_000022.10:g.50964815_50964845del , CM000684.1:g.50964815_50964845del	GRCh37
NC_000022.9:g.49311681_49311711del	NCBI36
NG_011860.1:g.8677_8707del , LRG_727:g.8677_8707del
NG_016235.1:g.5031_5061del
NG_021419.1:g.23171_23201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.996_1026del (TYMP) MANE Select	ENSP00000252029.3:p.Ala333SerfsTer?
ENST00000395680.6:c.996_1026del (TYMP)	ENSP00000379037.1:p.Ala333SerfsTer?
ENST00000395681.6:c.996_1026del (TYMP)	ENSP00000379038.1:p.Ala333SerfsTer?
ENST00000543927.6:c.-177_-147del (SCO2)	ENSP00000444433.1:n.-177_-147del
ENST00000650719.1:c.877_907del (TYMP)	ENSP00000498276.1:p.Gly293PhefsTer?
ENST00000652401.1:c.497_527del (TYMP)
ENST00000252029.7:c.996_1026del (TYMP)	ENSP00000252029.3:p.Ala333SerfsTer?
ENST00000395678.7:c.996_1026del (TYMP)	ENSP00000379036.3:p.Ala333SerfsTer?
ENST00000395680.5:c.996_1026del (TYMP)	ENSP00000379037.1:p.Ala333SerfsTer?
ENST00000395681.5:c.996_1026del (TYMP)	ENSP00000379038.1:p.Ala333SerfsTer?
ENST00000423348.1:c.-177_-147del	ENSP00000403570.1:n.-177_-147del
ENST00000425169.1:c.897_927del (TYMP)	ENSP00000395875.1:p.Ala300SerfsTer?
ENST00000476284.1:n.1002_1032del (TYMP)
ENST00000487577.5:n.1283_1313del (TYMP)
ENST00000543927.5:c.-177_-147del	ENSP00000444433.1:n.-177_-147del
NM_001113755.2:c.996_1026del (TYMP)	NP_001107227.1:p.Ala333SerfsTer?
NM_001113756.2:c.996_1026del (TYMP)	NP_001107228.1:p.Ala333SerfsTer?
NM_001169109.1:c.-177_-147del (SCO2)	NP_001162580.1:n.-177_-147del
NM_001257988.1:c.996_1026del , LRG_727t1:c.996_1026del (TYMP)	NP_001244917.1:p.Ala333SerfsTer?
NM_001257989.1:c.996_1026del , LRG_727t2:c.996_1026del (TYMP)	NP_001244918.1:p.Ala333SerfsTer?
NM_001953.4:c.996_1026del (TYMP)	NP_001944.1:p.Ala333SerfsTer?
NM_001113755.3:c.996_1026del (TYMP)	NP_001107227.1:p.Ala333SerfsTer?
NM_001113756.3:c.996_1026del (TYMP)	NP_001107228.1:p.Ala333SerfsTer?
NM_001953.5:c.996_1026del (TYMP) MANE Select	NP_001944.1:p.Ala333SerfsTer?
NM_001169109.2:c.-177_-147del (SCO2)	NP_001162580.1:n.-177_-147del