Canonical Allele Identifier: CA1071857801

Gene: CASP3

Linked Data

• dbSNP Id: rs1742997463
• gnomAD v3: 4-184648115-AGGG-A
• gnomAD v4: 4-184648115-AGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184648117_184648119del , CM000666.2:g.184648117_184648119del	GRCh38
NC_000004.11:g.185569271_185569273del , CM000666.1:g.185569271_185569273del	GRCh37
NC_000004.10:g.185806265_185806267del	NCBI36
NG_051582.1:g.3505_3507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.-16+347_-16+349del	ENSP00000514797.1:n.-16+347_-16+349del
ENST00000700101.1:c.-16+1874_-16+1876del	ENSP00000514798.1:n.-16+1874_-16+1876del
ENST00000700102.1:n.53+1277_53+1279del
ENST00000700103.1:n.53+1277_53+1279del
ENST00000700104.1:c.-16+1277_-16+1279del	ENSP00000514799.1:n.-16+1277_-16+1279del
ENST00000308394.9:c.-16+347_-16+349del MANE Select	ENSP00000311032.4:n.-16+347_-16+349del
ENST00000308394.8:c.-16+347_-16+349del	ENSP00000311032.4:n.-16+347_-16+349del
ENST00000393585.6:c.-208+347_-208+349del	ENSP00000377210.2:n.-208+347_-208+349del
ENST00000393588.8:c.-16+1277_-16+1279del	ENSP00000377213.4:n.-16+1277_-16+1279del
ENST00000447121.2:c.-16+385_-16+387del	ENSP00000407142.2:n.-16+385_-16+387del
ENST00000517513.5:c.-16+347_-16+349del	ENSP00000428372.1:n.-16+347_-16+349del
ENST00000523916.5:c.-16+1277_-16+1279del	ENSP00000428929.1:n.-16+1277_-16+1279del
ENST00000613118.4:c.-181+347_-181+349del	ENSP00000478339.1:n.-181+347_-181+349del
NM_004346.3:c.-16+347_-16+349del	NP_004337.2:n.-16+347_-16+349del
NM_032991.2:c.-16+1277_-16+1279del	NP_116786.1:n.-16+1277_-16+1279del
XM_011532301.1:c.-16+385_-16+387del	XP_011530603.1:n.-16+385_-16+387del
NM_001354777.1:c.-16+385_-16+387del	NP_001341706.1:n.-16+385_-16+387del
NM_001354779.1:c.-90+1277_-90+1279del	NP_001341708.1:n.-90+1277_-90+1279del
NM_001354780.1:c.-90+347_-90+349del	NP_001341709.1:n.-90+347_-90+349del
NM_001354781.1:c.-16+1277_-16+1279del	NP_001341710.1:n.-16+1277_-16+1279del
NM_001354782.1:c.-16+347_-16+349del	NP_001341711.1:n.-16+347_-16+349del
NM_001354783.1:c.-181+347_-181+349del	NP_001341712.1:n.-181+347_-181+349del
NM_001354784.1:c.-90+1277_-90+1279del	NP_001341713.1:n.-90+1277_-90+1279del
NM_004346.4:c.-16+347_-16+349del MANE Select	NP_004337.2:n.-16+347_-16+349del
NM_001354777.2:c.-16+385_-16+387del	NP_001341706.1:n.-16+385_-16+387del
NM_001354779.2:c.-90+1277_-90+1279del	NP_001341708.1:n.-90+1277_-90+1279del
NM_001354780.2:c.-90+347_-90+349del	NP_001341709.1:n.-90+347_-90+349del
NM_001354781.2:c.-16+1277_-16+1279del	NP_001341710.1:n.-16+1277_-16+1279del
NM_001354782.2:c.-16+347_-16+349del	NP_001341711.1:n.-16+347_-16+349del
NM_001354783.2:c.-181+347_-181+349del	NP_001341712.1:n.-181+347_-181+349del
NM_001354784.2:c.-90+1277_-90+1279del	NP_001341713.1:n.-90+1277_-90+1279del
NM_032991.3:c.-16+1277_-16+1279del	NP_116786.1:n.-16+1277_-16+1279del