Canonical Allele Identifier: CA1071857187

Gene: CASP3

Linked Data

• dbSNP Id: rs1742839668
• gnomAD v3: 4-184646645-T-TGCTTGA
• gnomAD v4: 4-184646645-T-TGCTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184646645_184646646insGCTTGA , CM000666.2:g.184646645_184646646insGCTTGA	GRCh38
NC_000004.11:g.185567799_185567800insGCTTGA , CM000666.1:g.185567799_185567800insGCTTGA	GRCh37
NC_000004.10:g.185804793_185804794insGCTTGA	NCBI36
NG_051582.1:g.2033_2034insGCTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.-16+1819_-16+1820insTCAAGC	ENSP00000514797.1:n.-16+1819_-16+1820insTCAAGC
ENST00000700101.1:c.-16+3346_-16+3347insTCAAGC	ENSP00000514798.1:n.-16+3346_-16+3347insTCAAGC
ENST00000700102.1:n.53+2749_53+2750insTCAAGC
ENST00000700103.1:n.53+2749_53+2750insTCAAGC
ENST00000700104.1:c.-16+2749_-16+2750insTCAAGC	ENSP00000514799.1:n.-16+2749_-16+2750insTCAAGC
ENST00000308394.9:c.-16+1819_-16+1820insTCAAGC MANE Select	ENSP00000311032.4:n.-16+1819_-16+1820insTCAAGC
ENST00000308394.8:c.-16+1819_-16+1820insTCAAGC	ENSP00000311032.4:n.-16+1819_-16+1820insTCAAGC
ENST00000393585.6:c.-208+1819_-208+1820insTCAAGC	ENSP00000377210.2:n.-208+1819_-208+1820insTCAAGC
ENST00000393588.8:c.-16+2749_-16+2750insTCAAGC	ENSP00000377213.4:n.-16+2749_-16+2750insTCAAGC
ENST00000447121.2:c.-16+1857_-16+1858insTCAAGC	ENSP00000407142.2:n.-16+1857_-16+1858insTCAAGC
ENST00000517513.5:c.-16+1819_-16+1820insTCAAGC	ENSP00000428372.1:n.-16+1819_-16+1820insTCAAGC
ENST00000523916.5:c.-16+2749_-16+2750insTCAAGC	ENSP00000428929.1:n.-16+2749_-16+2750insTCAAGC
ENST00000613118.4:c.-181+1819_-181+1820insTCAAGC	ENSP00000478339.1:n.-181+1819_-181+1820insTCAAGC
NM_004346.3:c.-16+1819_-16+1820insTCAAGC	NP_004337.2:n.-16+1819_-16+1820insTCAAGC
NM_032991.2:c.-16+2749_-16+2750insTCAAGC	NP_116786.1:n.-16+2749_-16+2750insTCAAGC
XM_011532301.1:c.-16+1857_-16+1858insTCAAGC	XP_011530603.1:n.-16+1857_-16+1858insTCAAGC
NM_001354777.1:c.-16+1857_-16+1858insTCAAGC	NP_001341706.1:n.-16+1857_-16+1858insTCAAGC
NM_001354779.1:c.-90+2749_-90+2750insTCAAGC	NP_001341708.1:n.-90+2749_-90+2750insTCAAGC
NM_001354780.1:c.-90+1819_-90+1820insTCAAGC	NP_001341709.1:n.-90+1819_-90+1820insTCAAGC
NM_001354781.1:c.-16+2749_-16+2750insTCAAGC	NP_001341710.1:n.-16+2749_-16+2750insTCAAGC
NM_001354782.1:c.-16+1819_-16+1820insTCAAGC	NP_001341711.1:n.-16+1819_-16+1820insTCAAGC
NM_001354783.1:c.-181+1819_-181+1820insTCAAGC	NP_001341712.1:n.-181+1819_-181+1820insTCAAGC
NM_001354784.1:c.-90+2749_-90+2750insTCAAGC	NP_001341713.1:n.-90+2749_-90+2750insTCAAGC
NM_004346.4:c.-16+1819_-16+1820insTCAAGC MANE Select	NP_004337.2:n.-16+1819_-16+1820insTCAAGC
NM_001354777.2:c.-16+1857_-16+1858insTCAAGC	NP_001341706.1:n.-16+1857_-16+1858insTCAAGC
NM_001354779.2:c.-90+2749_-90+2750insTCAAGC	NP_001341708.1:n.-90+2749_-90+2750insTCAAGC
NM_001354780.2:c.-90+1819_-90+1820insTCAAGC	NP_001341709.1:n.-90+1819_-90+1820insTCAAGC
NM_001354781.2:c.-16+2749_-16+2750insTCAAGC	NP_001341710.1:n.-16+2749_-16+2750insTCAAGC
NM_001354782.2:c.-16+1819_-16+1820insTCAAGC	NP_001341711.1:n.-16+1819_-16+1820insTCAAGC
NM_001354783.2:c.-181+1819_-181+1820insTCAAGC	NP_001341712.1:n.-181+1819_-181+1820insTCAAGC
NM_001354784.2:c.-90+2749_-90+2750insTCAAGC	NP_001341713.1:n.-90+2749_-90+2750insTCAAGC
NM_032991.3:c.-16+2749_-16+2750insTCAAGC	NP_116786.1:n.-16+2749_-16+2750insTCAAGC