Canonical Allele Identifier: CA792152746

Gene: CASP3

Linked Data

• dbSNP Id: rs1424057990
• gnomAD v3: 4-184648481-GGCAGGT-G
• gnomAD v4: 4-184648481-GGCAGGT-G
• MyVariant Identifiers: chr4:g.185569636_185569641del (hg19) ; chr4:g.184648482_184648487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184648487_184648492del , CM000666.2:g.184648487_184648492del	GRCh38
NC_000004.11:g.185569641_185569646del , CM000666.1:g.185569641_185569646del	GRCh37
NC_000004.10:g.185806635_185806640del	NCBI36
NG_051582.1:g.3875_3880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700100.1:c.-38_-33del	ENSP00000514797.1:n.-38_-33del
ENST00000700101.1:c.-16+1505_-16+1510del	ENSP00000514798.1:n.-16+1505_-16+1510del
ENST00000700102.1:n.53+908_53+913del
ENST00000700103.1:n.53+908_53+913del
ENST00000700104.1:c.-16+908_-16+913del	ENSP00000514799.1:n.-16+908_-16+913del
ENST00000308394.9:c.-38_-33del MANE Select	ENSP00000311032.4:n.-38_-33del
ENST00000308394.8:c.-38_-33del	ENSP00000311032.4:n.-38_-33del
ENST00000393585.6:c.-230_-225del	ENSP00000377210.2:n.-230_-225del
ENST00000393588.8:c.-16+908_-16+913del	ENSP00000377213.4:n.-16+908_-16+913del
ENST00000447121.2:c.-16+16_-16+21del	ENSP00000407142.2:n.-16+16_-16+21del
ENST00000517513.5:c.-38_-33del	ENSP00000428372.1:n.-38_-33del
ENST00000523916.5:c.-16+908_-16+913del	ENSP00000428929.1:n.-16+908_-16+913del
ENST00000613118.4:c.-203_-198del	ENSP00000478339.1:n.-203_-198del
NM_004346.3:c.-38_-33del	NP_004337.2:n.-38_-33del
NM_032991.2:c.-16+908_-16+913del	NP_116786.1:n.-16+908_-16+913del
XM_011532301.1:c.-16+16_-16+21del	XP_011530603.1:n.-16+16_-16+21del
NM_001354777.1:c.-16+16_-16+21del	NP_001341706.1:n.-16+16_-16+21del
NM_001354779.1:c.-90+908_-90+913del	NP_001341708.1:n.-90+908_-90+913del
NM_001354780.1:c.-112_-107del	NP_001341709.1:n.-112_-107del
NM_001354781.1:c.-16+908_-16+913del	NP_001341710.1:n.-16+908_-16+913del
NM_001354782.1:c.-38_-33del	NP_001341711.1:n.-38_-33del
NM_001354783.1:c.-203_-198del	NP_001341712.1:n.-203_-198del
NM_001354784.1:c.-90+908_-90+913del	NP_001341713.1:n.-90+908_-90+913del
NM_004346.4:c.-38_-33del MANE Select	NP_004337.2:n.-38_-33del
NM_001354777.2:c.-16+16_-16+21del	NP_001341706.1:n.-16+16_-16+21del
NM_001354779.2:c.-90+908_-90+913del	NP_001341708.1:n.-90+908_-90+913del
NM_001354780.2:c.-112_-107del	NP_001341709.1:n.-112_-107del
NM_001354781.2:c.-16+908_-16+913del	NP_001341710.1:n.-16+908_-16+913del
NM_001354782.2:c.-38_-33del	NP_001341711.1:n.-38_-33del
NM_001354783.2:c.-203_-198del	NP_001341712.1:n.-203_-198del
NM_001354784.2:c.-90+908_-90+913del	NP_001341713.1:n.-90+908_-90+913del
NM_032991.3:c.-16+908_-16+913del	NP_116786.1:n.-16+908_-16+913del