Canonical Allele Identifier: CA557001648

Gene: CASP3

Linked Data

• dbSNP Id: rs1253357453
• gnomAD v2: 4-185570186-CCCGGCCTCGCGCTGCCCGGCCTCCCCGGT-C
• gnomAD v3: 4-184649032-CCCGGCCTCGCGCTGCCCGGCCTCCCCGGT-C
• gnomAD v4: 4-184649032-CCCGGCCTCGCGCTGCCCGGCCTCCCCGGT-C
• MyVariant Identifiers: chr4:g.185570187_185570215del (hg19) ; chr4:g.184649033_184649061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184649035_184649063del , CM000666.2:g.184649035_184649063del	GRCh38
NC_000004.11:g.185570189_185570217del , CM000666.1:g.185570189_185570217del	GRCh37
NC_000004.10:g.185807183_185807211del	NCBI36
NG_051582.1:g.4423_4451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700101.1:c.-16+931_-16+959del	ENSP00000514798.1:n.-16+931_-16+959del
ENST00000700102.1:n.53+334_53+362del
ENST00000700103.1:n.53+334_53+362del
ENST00000700104.1:c.-16+334_-16+362del	ENSP00000514799.1:n.-16+334_-16+362del
ENST00000308394.9:c.-183+334_-183+362del MANE Select	ENSP00000311032.4:n.-183+334_-183+362del
ENST00000308394.8:c.-183+334_-183+362del	ENSP00000311032.4:n.-183+334_-183+362del
ENST00000393588.8:c.-16+334_-16+362del	ENSP00000377213.4:n.-16+334_-16+362del
ENST00000447121.2:c.-145+334_-145+362del	ENSP00000407142.2:n.-145+334_-145+362del
ENST00000517513.5:c.-183+334_-183+362del	ENSP00000428372.1:n.-183+334_-183+362del
ENST00000523916.5:c.-16+334_-16+362del	ENSP00000428929.1:n.-16+334_-16+362del
NM_004346.3:c.-183+334_-183+362del	NP_004337.2:n.-183+334_-183+362del
NM_032991.2:c.-16+334_-16+362del	NP_116786.1:n.-16+334_-16+362del
XM_011532301.1:c.-145+334_-145+362del	XP_011530603.1:n.-145+334_-145+362del
NM_001354777.1:c.-145+334_-145+362del	NP_001341706.1:n.-145+334_-145+362del
NM_001354779.1:c.-90+334_-90+362del	NP_001341708.1:n.-90+334_-90+362del
NM_001354780.1:c.-257+334_-257+362del	NP_001341709.1:n.-257+334_-257+362del
NM_001354781.1:c.-16+334_-16+362del	NP_001341710.1:n.-16+334_-16+362del
NM_001354782.1:c.-183+334_-183+362del	NP_001341711.1:n.-183+334_-183+362del
NM_001354783.1:c.-348+334_-348+362del	NP_001341712.1:n.-348+334_-348+362del
NM_001354784.1:c.-90+334_-90+362del	NP_001341713.1:n.-90+334_-90+362del
NM_004346.4:c.-183+334_-183+362del MANE Select	NP_004337.2:n.-183+334_-183+362del
NM_001354777.2:c.-145+334_-145+362del	NP_001341706.1:n.-145+334_-145+362del
NM_001354779.2:c.-90+334_-90+362del	NP_001341708.1:n.-90+334_-90+362del
NM_001354780.2:c.-257+334_-257+362del	NP_001341709.1:n.-257+334_-257+362del
NM_001354781.2:c.-16+334_-16+362del	NP_001341710.1:n.-16+334_-16+362del
NM_001354782.2:c.-183+334_-183+362del	NP_001341711.1:n.-183+334_-183+362del
NM_001354783.2:c.-348+334_-348+362del	NP_001341712.1:n.-348+334_-348+362del
NM_001354784.2:c.-90+334_-90+362del	NP_001341713.1:n.-90+334_-90+362del
NM_032991.3:c.-16+334_-16+362del	NP_116786.1:n.-16+334_-16+362del