Canonical Allele Identifier: CA792151646

Gene: CASP3

Linked Data

• dbSNP Id: rs1264013634
• gnomAD v3: 4-184646773-GATTCAGTAGCATTT-G
• gnomAD v4: 4-184646773-GATTCAGTAGCATTT-G
• MyVariant Identifiers: chr4:g.185567928_185567941del (hg19) ; chr4:g.184646774_184646787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184646779_184646792del , CM000666.2:g.184646779_184646792del	GRCh38
NC_000004.11:g.185567933_185567946del , CM000666.1:g.185567933_185567946del	GRCh37
NC_000004.10:g.185804927_185804940del	NCBI36
NG_051582.1:g.2167_2180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.-16+1678_-16+1691del	ENSP00000514797.1:n.-16+1678_-16+1691del
ENST00000700101.1:c.-16+3205_-16+3218del	ENSP00000514798.1:n.-16+3205_-16+3218del
ENST00000700102.1:n.53+2608_53+2621del
ENST00000700103.1:n.53+2608_53+2621del
ENST00000700104.1:c.-16+2608_-16+2621del	ENSP00000514799.1:n.-16+2608_-16+2621del
ENST00000308394.9:c.-16+1678_-16+1691del MANE Select	ENSP00000311032.4:n.-16+1678_-16+1691del
ENST00000308394.8:c.-16+1678_-16+1691del	ENSP00000311032.4:n.-16+1678_-16+1691del
ENST00000393585.6:c.-208+1678_-208+1691del	ENSP00000377210.2:n.-208+1678_-208+1691del
ENST00000393588.8:c.-16+2608_-16+2621del	ENSP00000377213.4:n.-16+2608_-16+2621del
ENST00000447121.2:c.-16+1716_-16+1729del	ENSP00000407142.2:n.-16+1716_-16+1729del
ENST00000517513.5:c.-16+1678_-16+1691del	ENSP00000428372.1:n.-16+1678_-16+1691del
ENST00000523916.5:c.-16+2608_-16+2621del	ENSP00000428929.1:n.-16+2608_-16+2621del
ENST00000613118.4:c.-181+1678_-181+1691del	ENSP00000478339.1:n.-181+1678_-181+1691del
NM_004346.3:c.-16+1678_-16+1691del	NP_004337.2:n.-16+1678_-16+1691del
NM_032991.2:c.-16+2608_-16+2621del	NP_116786.1:n.-16+2608_-16+2621del
XM_011532301.1:c.-16+1716_-16+1729del	XP_011530603.1:n.-16+1716_-16+1729del
NM_001354777.1:c.-16+1716_-16+1729del	NP_001341706.1:n.-16+1716_-16+1729del
NM_001354779.1:c.-90+2608_-90+2621del	NP_001341708.1:n.-90+2608_-90+2621del
NM_001354780.1:c.-90+1678_-90+1691del	NP_001341709.1:n.-90+1678_-90+1691del
NM_001354781.1:c.-16+2608_-16+2621del	NP_001341710.1:n.-16+2608_-16+2621del
NM_001354782.1:c.-16+1678_-16+1691del	NP_001341711.1:n.-16+1678_-16+1691del
NM_001354783.1:c.-181+1678_-181+1691del	NP_001341712.1:n.-181+1678_-181+1691del
NM_001354784.1:c.-90+2608_-90+2621del	NP_001341713.1:n.-90+2608_-90+2621del
NM_004346.4:c.-16+1678_-16+1691del MANE Select	NP_004337.2:n.-16+1678_-16+1691del
NM_001354777.2:c.-16+1716_-16+1729del	NP_001341706.1:n.-16+1716_-16+1729del
NM_001354779.2:c.-90+2608_-90+2621del	NP_001341708.1:n.-90+2608_-90+2621del
NM_001354780.2:c.-90+1678_-90+1691del	NP_001341709.1:n.-90+1678_-90+1691del
NM_001354781.2:c.-16+2608_-16+2621del	NP_001341710.1:n.-16+2608_-16+2621del
NM_001354782.2:c.-16+1678_-16+1691del	NP_001341711.1:n.-16+1678_-16+1691del
NM_001354783.2:c.-181+1678_-181+1691del	NP_001341712.1:n.-181+1678_-181+1691del
NM_001354784.2:c.-90+2608_-90+2621del	NP_001341713.1:n.-90+2608_-90+2621del
NM_032991.3:c.-16+2608_-16+2621del	NP_116786.1:n.-16+2608_-16+2621del