Canonical Allele Identifier: CA2410907838

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526378_50526409delinsAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCC , CM000684.2:g.50526378_50526409delinsAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCC	GRCh38
NC_000022.10:g.50964807_50964838delinsAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCC , CM000684.1:g.50964807_50964838delinsAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCC	GRCh37
NC_000022.9:g.49311673_49311704delinsAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCC	NCBI36
NG_011860.1:g.8677_8708delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT , LRG_727:g.8677_8708delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT
NG_016235.1:g.5031_5062delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT
NG_021419.1:g.23163_23194delinsAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP) MANE Select	ENSP00000252029.3:p.Ala332=
ENST00000395680.6:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000379037.1:p.Ala332=
ENST00000395681.6:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000379038.1:p.Ala332=
ENST00000543927.6:c.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (SCO2)	ENSP00000444433.1:n.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTG...
ENST00000650719.1:c.877_908delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000498276.1:p.Gly293=
ENST00000652401.1:c.497_528delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)
ENST00000252029.7:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000252029.3:p.Ala332=
ENST00000395678.7:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000379036.3:p.Ala332=
ENST00000395680.5:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000379037.1:p.Ala332=
ENST00000395681.5:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000379038.1:p.Ala332=
ENST00000423348.1:c.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT	ENSP00000403570.1:n.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTG...
ENST00000425169.1:c.897_928delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	ENSP00000395875.1:p.Ala299=
ENST00000476284.1:n.1002_1033delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)
ENST00000487577.5:n.1283_1314delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)
ENST00000543927.5:c.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT	ENSP00000444433.1:n.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTG...
NM_001113755.2:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	NP_001107227.1:p.Ala332=
NM_001113756.2:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	NP_001107228.1:p.Ala332=
NM_001169109.1:c.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (SCO2)	NP_001162580.1:n.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTGGCC...
NM_001257988.1:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT , LRG_727t1:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	NP_001244917.1:p.Ala332=
NM_001257989.1:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT , LRG_727t2:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	NP_001244918.1:p.Ala332=
NM_001953.4:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	NP_001944.1:p.Ala332=
NM_001113755.3:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	NP_001107227.1:p.Ala332=
NM_001113756.3:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP)	NP_001107228.1:p.Ala332=
NM_001953.5:c.996_1027delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (TYMP) MANE Select	NP_001944.1:p.Ala332=
NM_001169109.2:c.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTGGCCGCT (SCO2)	NP_001162580.1:n.-177_-146delinsGGCGCTGGACGACGGCTCGGCCCTTGGCC...