Canonical Allele Identifier: CA557001650

Gene: CASP3

Linked Data

• dbSNP Id: rs1470139513
• gnomAD v2: 4-185570215-T-TCCCAGCCCAGCCTCCCGCC
• gnomAD v3: 4-184649061-T-TCCCAGCCCAGCCTCCCGCC
• gnomAD v4: 4-184649061-T-TCCCAGCCCAGCCTCCCGCC
• MyVariant Identifiers: chr4:g.185570215_185570216insCCCAGCCCAGCCTCCCGCC (hg19) ; chr4:g.184649061_184649062insCCCAGCCCAGCCTCCCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184649065_184649083dup , CM000666.2:g.184649065_184649083dup	GRCh38
NC_000004.11:g.185570219_185570237dup , CM000666.1:g.185570219_185570237dup	GRCh37
NC_000004.10:g.185807213_185807231dup	NCBI36
NG_051582.1:g.4453_4471dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700101.1:c.-16+912_-16+930dup	ENSP00000514798.1:n.-16+912_-16+930dup
ENST00000700102.1:n.53+315_53+333dup
ENST00000700103.1:n.53+315_53+333dup
ENST00000700104.1:c.-16+315_-16+333dup	ENSP00000514799.1:n.-16+315_-16+333dup
ENST00000308394.9:c.-183+315_-183+333dup MANE Select	ENSP00000311032.4:n.-183+315_-183+333dup
ENST00000308394.8:c.-183+315_-183+333dup	ENSP00000311032.4:n.-183+315_-183+333dup
ENST00000393588.8:c.-16+315_-16+333dup	ENSP00000377213.4:n.-16+315_-16+333dup
ENST00000447121.2:c.-145+315_-145+333dup	ENSP00000407142.2:n.-145+315_-145+333dup
ENST00000517513.5:c.-183+315_-183+333dup	ENSP00000428372.1:n.-183+315_-183+333dup
ENST00000523916.5:c.-16+315_-16+333dup	ENSP00000428929.1:n.-16+315_-16+333dup
NM_004346.3:c.-183+315_-183+333dup	NP_004337.2:n.-183+315_-183+333dup
NM_032991.2:c.-16+315_-16+333dup	NP_116786.1:n.-16+315_-16+333dup
XM_011532301.1:c.-145+315_-145+333dup	XP_011530603.1:n.-145+315_-145+333dup
NM_001354777.1:c.-145+315_-145+333dup	NP_001341706.1:n.-145+315_-145+333dup
NM_001354779.1:c.-90+315_-90+333dup	NP_001341708.1:n.-90+315_-90+333dup
NM_001354780.1:c.-257+315_-257+333dup	NP_001341709.1:n.-257+315_-257+333dup
NM_001354781.1:c.-16+315_-16+333dup	NP_001341710.1:n.-16+315_-16+333dup
NM_001354782.1:c.-183+315_-183+333dup	NP_001341711.1:n.-183+315_-183+333dup
NM_001354783.1:c.-348+315_-348+333dup	NP_001341712.1:n.-348+315_-348+333dup
NM_001354784.1:c.-90+315_-90+333dup	NP_001341713.1:n.-90+315_-90+333dup
NM_004346.4:c.-183+315_-183+333dup MANE Select	NP_004337.2:n.-183+315_-183+333dup
NM_001354777.2:c.-145+315_-145+333dup	NP_001341706.1:n.-145+315_-145+333dup
NM_001354779.2:c.-90+315_-90+333dup	NP_001341708.1:n.-90+315_-90+333dup
NM_001354780.2:c.-257+315_-257+333dup	NP_001341709.1:n.-257+315_-257+333dup
NM_001354781.2:c.-16+315_-16+333dup	NP_001341710.1:n.-16+315_-16+333dup
NM_001354782.2:c.-183+315_-183+333dup	NP_001341711.1:n.-183+315_-183+333dup
NM_001354783.2:c.-348+315_-348+333dup	NP_001341712.1:n.-348+315_-348+333dup
NM_001354784.2:c.-90+315_-90+333dup	NP_001341713.1:n.-90+315_-90+333dup
NM_032991.3:c.-16+315_-16+333dup	NP_116786.1:n.-16+315_-16+333dup