Canonical Allele Identifier: CA2606927871

Gene: CASP3

Linked Data

• dbSNP Id: rs2149994439
• gnomAD v3: 4-184648876-TCC-T
• gnomAD v4: 4-184648876-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184648878_184648879del , CM000666.2:g.184648878_184648879del	GRCh38
NC_000004.11:g.185570032_185570033del , CM000666.1:g.185570032_185570033del	GRCh37
NC_000004.10:g.185807026_185807027del	NCBI36
NG_051582.1:g.4266_4267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.-429_-428del	ENSP00000514797.1:n.-429_-428del
ENST00000700101.1:c.-16+1114_-16+1115del	ENSP00000514798.1:n.-16+1114_-16+1115del
ENST00000700102.1:n.53+517_53+518del
ENST00000700103.1:n.53+517_53+518del
ENST00000700104.1:c.-16+517_-16+518del	ENSP00000514799.1:n.-16+517_-16+518del
ENST00000308394.9:c.-182-247_-182-246del MANE Select	ENSP00000311032.4:n.-182-247_-182-246del
ENST00000308394.8:c.-182-247_-182-246del	ENSP00000311032.4:n.-182-247_-182-246del
ENST00000393588.8:c.-16+517_-16+518del	ENSP00000377213.4:n.-16+517_-16+518del
ENST00000447121.2:c.-144-247_-144-246del	ENSP00000407142.2:n.-144-247_-144-246del
ENST00000517513.5:c.-182-247_-182-246del	ENSP00000428372.1:n.-182-247_-182-246del
ENST00000523916.5:c.-16+517_-16+518del	ENSP00000428929.1:n.-16+517_-16+518del
NM_004346.3:c.-182-247_-182-246del	NP_004337.2:n.-182-247_-182-246del
NM_032991.2:c.-16+517_-16+518del	NP_116786.1:n.-16+517_-16+518del
XM_011532301.1:c.-144-247_-144-246del	XP_011530603.1:n.-144-247_-144-246del
NM_001354777.1:c.-144-247_-144-246del	NP_001341706.1:n.-144-247_-144-246del
NM_001354779.1:c.-90+517_-90+518del	NP_001341708.1:n.-90+517_-90+518del
NM_001354780.1:c.-256-247_-256-246del	NP_001341709.1:n.-256-247_-256-246del
NM_001354781.1:c.-16+517_-16+518del	NP_001341710.1:n.-16+517_-16+518del
NM_001354782.1:c.-182-247_-182-246del	NP_001341711.1:n.-182-247_-182-246del
NM_001354783.1:c.-347-247_-347-246del	NP_001341712.1:n.-347-247_-347-246del
NM_001354784.1:c.-90+517_-90+518del	NP_001341713.1:n.-90+517_-90+518del
NM_004346.4:c.-182-247_-182-246del MANE Select	NP_004337.2:n.-182-247_-182-246del
NM_001354777.2:c.-144-247_-144-246del	NP_001341706.1:n.-144-247_-144-246del
NM_001354779.2:c.-90+517_-90+518del	NP_001341708.1:n.-90+517_-90+518del
NM_001354780.2:c.-256-247_-256-246del	NP_001341709.1:n.-256-247_-256-246del
NM_001354781.2:c.-16+517_-16+518del	NP_001341710.1:n.-16+517_-16+518del
NM_001354782.2:c.-182-247_-182-246del	NP_001341711.1:n.-182-247_-182-246del
NM_001354783.2:c.-347-247_-347-246del	NP_001341712.1:n.-347-247_-347-246del
NM_001354784.2:c.-90+517_-90+518del	NP_001341713.1:n.-90+517_-90+518del
NM_032991.3:c.-16+517_-16+518del	NP_116786.1:n.-16+517_-16+518del