Canonical Allele Identifier: CA557001646

Gene: CASP3

Linked Data

• dbSNP Id: rs1202637446
• gnomAD v2: 4-185570174-T-TGGCCTCCCCGGCCCGGCCTCGCGCTGCCC
• gnomAD v3: 4-184649020-T-TGGCCTCCCCGGCCCGGCCTCGCGCTGCCC
• gnomAD v4: 4-184649020-T-TGGCCTCCCCGGCCCGGCCTCGCGCTGCCC
• MyVariant Identifiers: chr4:g.185570203_185570204insGGCCTCCCCGGCCCGGCCTCGCGCTGCCC (hg19) ; chr4:g.184649049_184649050insGGCCTCCCCGGCCCGGCCTCGCGCTGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184649032_184649060dup , CM000666.2:g.184649032_184649060dup	GRCh38
NC_000004.11:g.185570186_185570214dup , CM000666.1:g.185570186_185570214dup	GRCh37
NC_000004.10:g.185807180_185807208dup	NCBI36
NG_051582.1:g.4420_4448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700101.1:c.-16+943_-16+971dup	ENSP00000514798.1:n.-16+943_-16+971dup
ENST00000700102.1:n.53+346_53+374dup
ENST00000700103.1:n.53+346_53+374dup
ENST00000700104.1:c.-16+346_-16+374dup	ENSP00000514799.1:n.-16+346_-16+374dup
ENST00000308394.9:c.-183+346_-183+374dup MANE Select	ENSP00000311032.4:n.-183+346_-183+374dup
ENST00000308394.8:c.-183+346_-183+374dup	ENSP00000311032.4:n.-183+346_-183+374dup
ENST00000393588.8:c.-16+346_-16+374dup	ENSP00000377213.4:n.-16+346_-16+374dup
ENST00000447121.2:c.-145+346_-145+374dup	ENSP00000407142.2:n.-145+346_-145+374dup
ENST00000517513.5:c.-183+346_-183+374dup	ENSP00000428372.1:n.-183+346_-183+374dup
ENST00000523916.5:c.-16+346_-16+374dup	ENSP00000428929.1:n.-16+346_-16+374dup
NM_004346.3:c.-183+346_-183+374dup	NP_004337.2:n.-183+346_-183+374dup
NM_032991.2:c.-16+346_-16+374dup	NP_116786.1:n.-16+346_-16+374dup
XM_011532301.1:c.-145+346_-145+374dup	XP_011530603.1:n.-145+346_-145+374dup
NM_001354777.1:c.-145+346_-145+374dup	NP_001341706.1:n.-145+346_-145+374dup
NM_001354779.1:c.-90+346_-90+374dup	NP_001341708.1:n.-90+346_-90+374dup
NM_001354780.1:c.-257+346_-257+374dup	NP_001341709.1:n.-257+346_-257+374dup
NM_001354781.1:c.-16+346_-16+374dup	NP_001341710.1:n.-16+346_-16+374dup
NM_001354782.1:c.-183+346_-183+374dup	NP_001341711.1:n.-183+346_-183+374dup
NM_001354783.1:c.-348+346_-348+374dup	NP_001341712.1:n.-348+346_-348+374dup
NM_001354784.1:c.-90+346_-90+374dup	NP_001341713.1:n.-90+346_-90+374dup
NM_004346.4:c.-183+346_-183+374dup MANE Select	NP_004337.2:n.-183+346_-183+374dup
NM_001354777.2:c.-145+346_-145+374dup	NP_001341706.1:n.-145+346_-145+374dup
NM_001354779.2:c.-90+346_-90+374dup	NP_001341708.1:n.-90+346_-90+374dup
NM_001354780.2:c.-257+346_-257+374dup	NP_001341709.1:n.-257+346_-257+374dup
NM_001354781.2:c.-16+346_-16+374dup	NP_001341710.1:n.-16+346_-16+374dup
NM_001354782.2:c.-183+346_-183+374dup	NP_001341711.1:n.-183+346_-183+374dup
NM_001354783.2:c.-348+346_-348+374dup	NP_001341712.1:n.-348+346_-348+374dup
NM_001354784.2:c.-90+346_-90+374dup	NP_001341713.1:n.-90+346_-90+374dup
NM_032991.3:c.-16+346_-16+374dup	NP_116786.1:n.-16+346_-16+374dup