Canonical Allele Identifier: CA111908827

Gene: CASP3

Linked Data

• dbSNP Id: rs959203040
• gnomAD v3: 4-184646602-GTATGA-G
• gnomAD v4: 4-184646602-GTATGA-G
• MyVariant Identifiers: chr4:g.185567757_185567761del (hg19) ; chr4:g.184646603_184646607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184646606_184646610del , CM000666.2:g.184646606_184646610del	GRCh38
NC_000004.11:g.185567760_185567764del , CM000666.1:g.185567760_185567764del	GRCh37
NC_000004.10:g.185804754_185804758del	NCBI36
NG_051582.1:g.1994_1998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.-16+1858_-16+1862del	ENSP00000514797.1:n.-16+1858_-16+1862del
ENST00000700101.1:c.-16+3385_-16+3389del	ENSP00000514798.1:n.-16+3385_-16+3389del
ENST00000700102.1:n.53+2788_53+2792del
ENST00000700103.1:n.53+2788_53+2792del
ENST00000700104.1:c.-16+2788_-16+2792del	ENSP00000514799.1:n.-16+2788_-16+2792del
ENST00000308394.9:c.-16+1858_-16+1862del MANE Select	ENSP00000311032.4:n.-16+1858_-16+1862del
ENST00000308394.8:c.-16+1858_-16+1862del	ENSP00000311032.4:n.-16+1858_-16+1862del
ENST00000393585.6:c.-208+1858_-208+1862del	ENSP00000377210.2:n.-208+1858_-208+1862del
ENST00000393588.8:c.-16+2788_-16+2792del	ENSP00000377213.4:n.-16+2788_-16+2792del
ENST00000447121.2:c.-16+1896_-16+1900del	ENSP00000407142.2:n.-16+1896_-16+1900del
ENST00000517513.5:c.-16+1858_-16+1862del	ENSP00000428372.1:n.-16+1858_-16+1862del
ENST00000523916.5:c.-16+2788_-16+2792del	ENSP00000428929.1:n.-16+2788_-16+2792del
ENST00000613118.4:c.-181+1858_-181+1862del	ENSP00000478339.1:n.-181+1858_-181+1862del
NM_004346.3:c.-16+1858_-16+1862del	NP_004337.2:n.-16+1858_-16+1862del
NM_032991.2:c.-16+2788_-16+2792del	NP_116786.1:n.-16+2788_-16+2792del
XM_011532301.1:c.-16+1896_-16+1900del	XP_011530603.1:n.-16+1896_-16+1900del
NM_001354777.1:c.-16+1896_-16+1900del	NP_001341706.1:n.-16+1896_-16+1900del
NM_001354779.1:c.-90+2788_-90+2792del	NP_001341708.1:n.-90+2788_-90+2792del
NM_001354780.1:c.-90+1858_-90+1862del	NP_001341709.1:n.-90+1858_-90+1862del
NM_001354781.1:c.-16+2788_-16+2792del	NP_001341710.1:n.-16+2788_-16+2792del
NM_001354782.1:c.-16+1858_-16+1862del	NP_001341711.1:n.-16+1858_-16+1862del
NM_001354783.1:c.-181+1858_-181+1862del	NP_001341712.1:n.-181+1858_-181+1862del
NM_001354784.1:c.-90+2788_-90+2792del	NP_001341713.1:n.-90+2788_-90+2792del
NM_004346.4:c.-16+1858_-16+1862del MANE Select	NP_004337.2:n.-16+1858_-16+1862del
NM_001354777.2:c.-16+1896_-16+1900del	NP_001341706.1:n.-16+1896_-16+1900del
NM_001354779.2:c.-90+2788_-90+2792del	NP_001341708.1:n.-90+2788_-90+2792del
NM_001354780.2:c.-90+1858_-90+1862del	NP_001341709.1:n.-90+1858_-90+1862del
NM_001354781.2:c.-16+2788_-16+2792del	NP_001341710.1:n.-16+2788_-16+2792del
NM_001354782.2:c.-16+1858_-16+1862del	NP_001341711.1:n.-16+1858_-16+1862del
NM_001354783.2:c.-181+1858_-181+1862del	NP_001341712.1:n.-181+1858_-181+1862del
NM_001354784.2:c.-90+2788_-90+2792del	NP_001341713.1:n.-90+2788_-90+2792del
NM_032991.3:c.-16+2788_-16+2792del	NP_116786.1:n.-16+2788_-16+2792del