Canonical Allele Identifier: CA2410907855

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526402_50526422delinsCCAGCGCCGCGGCCACCCGGG , CM000684.2:g.50526402_50526422delinsCCAGCGCCGCGGCCACCCGGG	GRCh38
NC_000022.10:g.50964831_50964851delinsCCAGCGCCGCGGCCACCCGGG , CM000684.1:g.50964831_50964851delinsCCAGCGCCGCGGCCACCCGGG	GRCh37
NC_000022.9:g.49311697_49311717delinsCCAGCGCCGCGGCCACCCGGG	NCBI36
NG_011860.1:g.8664_8684delinsCCCGGGTGGCCGCGGCGCTGG , LRG_727:g.8664_8684delinsCCCGGGTGGCCGCGGCGCTGG
NG_016235.1:g.5018_5038delinsCCCGGGTGGCCGCGGCGCTGG
NG_021419.1:g.23187_23207delinsCCAGCGCCGCGGCCACCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP) MANE Select	ENSP00000252029.3:p.Ala328=
ENST00000395680.6:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000379037.1:p.Ala328=
ENST00000395681.6:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000379038.1:p.Ala328=
ENST00000543927.6:c.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG (SCO2)	ENSP00000444433.1:n.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG
ENST00000650719.1:c.864_884delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000498276.1:p.Cys288=
ENST00000651401.1:c.467_487delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000499115.1:p.Ala156=
ENST00000652401.1:c.484_504delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)
ENST00000252029.7:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000252029.3:p.Ala328=
ENST00000395678.7:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000379036.3:p.Ala328=
ENST00000395680.5:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000379037.1:p.Ala328=
ENST00000395681.5:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000379038.1:p.Ala328=
ENST00000423348.1:c.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG	ENSP00000403570.1:n.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG
ENST00000425169.1:c.884_904delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	ENSP00000395875.1:p.Ala295=
ENST00000476284.1:n.989_1009delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)
ENST00000487577.5:n.1270_1290delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)
ENST00000543927.5:c.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG	ENSP00000444433.1:n.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG
NM_001113755.2:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	NP_001107227.1:p.Ala328=
NM_001113756.2:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	NP_001107228.1:p.Ala328=
NM_001169109.1:c.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG (SCO2)	NP_001162580.1:n.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG
NM_001257988.1:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG , LRG_727t1:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	NP_001244917.1:p.Ala328=
NM_001257989.1:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG , LRG_727t2:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	NP_001244918.1:p.Ala328=
NM_001953.4:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	NP_001944.1:p.Ala328=
NM_001113755.3:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	NP_001107227.1:p.Ala328=
NM_001113756.3:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP)	NP_001107228.1:p.Ala328=
NM_001953.5:c.983_1003delinsCCCGGGTGGCCGCGGCGCTGG (TYMP) MANE Select	NP_001944.1:p.Ala328=
NM_001169109.2:c.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG (SCO2)	NP_001162580.1:n.-190_-170delinsCCCGGGTGGCCGCGGCGCTGG