Canonical Allele Identifier: CA1071857248

Gene: CASP3

Linked Data

• dbSNP Id: rs1742851346
• gnomAD v3: 4-184646859-A-AGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATACAGATG
• gnomAD v4: 4-184646859-A-AGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATACAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184646910_184646911insAGATGGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATAC , CM000666.2:g.184646910_184646911insAGATGGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATAC	GRCh38
NC_000004.11:g.185568064_185568065insAGATGGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATAC , CM000666.1:g.185568064_185568065insAGATGGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATAC	GRCh37
NC_000004.10:g.185805058_185805059insAGATGGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATAC	NCBI36
NG_051582.1:g.2298_2299insAGATGGTGTATCAAGCAGTGGAAGAGACAAACCCTATCTCTATTCAGGGCTTATAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000700100.1:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000514797.1:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATA...
ENST00000700101.1:c.-16+3132_-16+3133insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000514798.1:n.-16+3132_-16+3133insCATCTGTATAAGCCCTGAATA...
ENST00000700102.1:n.53+2535_53+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC
ENST00000700103.1:n.53+2535_53+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC
ENST00000700104.1:c.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000514799.1:n.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATA...
ENST00000308394.9:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC MANE Select	ENSP00000311032.4:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATA...
ENST00000308394.8:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000311032.4:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATA...
ENST00000393585.6:c.-208+1605_-208+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000377210.2:n.-208+1605_-208+1606insCATCTGTATAAGCCCTGAA...
ENST00000393588.8:c.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000377213.4:n.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATA...
ENST00000447121.2:c.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000407142.2:n.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATA...
ENST00000517513.5:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000428372.1:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATA...
ENST00000523916.5:c.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000428929.1:n.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATA...
ENST00000613118.4:c.-181+1605_-181+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	ENSP00000478339.1:n.-181+1605_-181+1606insCATCTGTATAAGCCCTGAA...
NM_004346.3:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_004337.2:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATA...
NM_032991.2:c.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_116786.1:n.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATA...
XM_011532301.1:c.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	XP_011530603.1:n.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATAGAG...
NM_001354777.1:c.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341706.1:n.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATAGAG...
NM_001354779.1:c.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341708.1:n.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAG...
NM_001354780.1:c.-90+1605_-90+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341709.1:n.-90+1605_-90+1606insCATCTGTATAAGCCCTGAATAGAG...
NM_001354781.1:c.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341710.1:n.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAG...
NM_001354782.1:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341711.1:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAG...
NM_001354783.1:c.-181+1605_-181+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341712.1:n.-181+1605_-181+1606insCATCTGTATAAGCCCTGAATAG...
NM_001354784.1:c.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341713.1:n.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAG...
NM_004346.4:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC MANE Select	NP_004337.2:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATA...
NM_001354777.2:c.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341706.1:n.-16+1643_-16+1644insCATCTGTATAAGCCCTGAATAGAG...
NM_001354779.2:c.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341708.1:n.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAG...
NM_001354780.2:c.-90+1605_-90+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341709.1:n.-90+1605_-90+1606insCATCTGTATAAGCCCTGAATAGAG...
NM_001354781.2:c.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341710.1:n.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAG...
NM_001354782.2:c.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341711.1:n.-16+1605_-16+1606insCATCTGTATAAGCCCTGAATAGAG...
NM_001354783.2:c.-181+1605_-181+1606insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341712.1:n.-181+1605_-181+1606insCATCTGTATAAGCCCTGAATAG...
NM_001354784.2:c.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_001341713.1:n.-90+2535_-90+2536insCATCTGTATAAGCCCTGAATAGAG...
NM_032991.3:c.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATAGGGTTTGTCTCTTCCACTGCTTGATACAC	NP_116786.1:n.-16+2535_-16+2536insCATCTGTATAAGCCCTGAATAGAGATA...