Canonical Allele Identifier: CA2708184170
Gene: CASP3 HGNC NCBI

Linked Data

dbSNP Id: rs2149995234

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.184649014_184649028del , CM000666.2:g.184649014_184649028del GRCh38
NC_000004.11:g.185570168_185570182del , CM000666.1:g.185570168_185570182del GRCh37
NC_000004.10:g.185807162_185807176del NCBI36
NG_051582.1:g.4402_4416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700101.1:c.-16+972_-16+986del ENSP00000514798.1:n.-16+972_-16+986del
ENST00000700102.1:n.53+375_53+389del
ENST00000700103.1:n.53+375_53+389del
ENST00000700104.1:c.-16+375_-16+389del ENSP00000514799.1:n.-16+375_-16+389del
ENST00000308394.9:c.-183+375_-182-375del MANE Select ENSP00000311032.4:n.-183+375_-182-375del
ENST00000308394.8:c.-183+375_-182-375del ENSP00000311032.4:n.-183+375_-182-375del
ENST00000393588.8:c.-16+375_-16+389del ENSP00000377213.4:n.-16+375_-16+389del
ENST00000447121.2:c.-145+375_-144-375del ENSP00000407142.2:n.-145+375_-144-375del
ENST00000517513.5:c.-183+375_-182-375del ENSP00000428372.1:n.-183+375_-182-375del
ENST00000523916.5:c.-16+375_-16+389del ENSP00000428929.1:n.-16+375_-16+389del
NM_004346.3:c.-183+375_-182-375del NP_004337.2:n.-183+375_-182-375del
NM_032991.2:c.-16+375_-16+389del NP_116786.1:n.-16+375_-16+389del
XM_011532301.1:c.-145+375_-144-375del XP_011530603.1:n.-145+375_-144-375del
NM_001354777.1:c.-145+375_-144-375del NP_001341706.1:n.-145+375_-144-375del
NM_001354779.1:c.-90+375_-90+389del NP_001341708.1:n.-90+375_-90+389del
NM_001354780.1:c.-257+375_-256-375del NP_001341709.1:n.-257+375_-256-375del
NM_001354781.1:c.-16+375_-16+389del NP_001341710.1:n.-16+375_-16+389del
NM_001354782.1:c.-183+375_-182-375del NP_001341711.1:n.-183+375_-182-375del
NM_001354783.1:c.-348+375_-347-375del NP_001341712.1:n.-348+375_-347-375del
NM_001354784.1:c.-90+375_-90+389del NP_001341713.1:n.-90+375_-90+389del
NM_004346.4:c.-183+375_-182-375del MANE Select NP_004337.2:n.-183+375_-182-375del
NM_001354777.2:c.-145+375_-144-375del NP_001341706.1:n.-145+375_-144-375del
NM_001354779.2:c.-90+375_-90+389del NP_001341708.1:n.-90+375_-90+389del
NM_001354780.2:c.-257+375_-256-375del NP_001341709.1:n.-257+375_-256-375del
NM_001354781.2:c.-16+375_-16+389del NP_001341710.1:n.-16+375_-16+389del
NM_001354782.2:c.-183+375_-182-375del NP_001341711.1:n.-183+375_-182-375del
NM_001354783.2:c.-348+375_-347-375del NP_001341712.1:n.-348+375_-347-375del
NM_001354784.2:c.-90+375_-90+389del NP_001341713.1:n.-90+375_-90+389del
NM_032991.3:c.-16+375_-16+389del NP_116786.1:n.-16+375_-16+389del