Canonical Allele Identifier: CA1071870632
Gene: CASP3 HGNC NCBI

Linked Data

dbSNP Id: rs1741808519

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.184627842_184627843del , CM000666.2:g.184627842_184627843del GRCh38
NC_000004.11:g.185548996_185548997del , CM000666.1:g.185548996_185548997del GRCh37
NC_000004.10:g.185785990_185785991del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000700100.1:c.*1430_*1431del ENSP00000514797.1:n.*1430_*1431del
ENST00000700101.1:c.*1430_*1431del ENSP00000514798.1:n.*1430_*1431del
ENST00000700102.1:n.3867_3868del
ENST00000700103.1:n.5229_5230del
ENST00000700104.1:c.*2013_*2014del ENSP00000514799.1:n.*2013_*2014del
ENST00000308394.9:c.*1430_*1431del MANE Select ENSP00000311032.4:n.*1430_*1431del
ENST00000308394.8:c.*1430_*1431del ENSP00000311032.4:n.*1430_*1431del
ENST00000393585.6:c.*1594_*1595del ENSP00000377210.2:n.*1594_*1595del
ENST00000523916.5:c.*1430_*1431del ENSP00000428929.1:n.*1430_*1431del
ENST00000613118.4:c.*1697_*1698del ENSP00000478339.1:n.*1697_*1698del
NM_004346.3:c.*1430_*1431del NP_004337.2:n.*1430_*1431del
NM_032991.2:c.*1430_*1431del NP_116786.1:n.*1430_*1431del
XM_011532301.1:c.*1430_*1431del XP_011530603.1:n.*1430_*1431del
NM_001354777.1:c.*1430_*1431del NP_001341706.1:n.*1430_*1431del
NM_001354779.1:c.*1430_*1431del NP_001341708.1:n.*1430_*1431del
NM_001354780.1:c.*1430_*1431del NP_001341709.1:n.*1430_*1431del
NM_001354781.1:c.*1594_*1595del NP_001341710.1:n.*1594_*1595del
NM_001354782.1:c.*1594_*1595del NP_001341711.1:n.*1594_*1595del
NM_001354783.1:c.*1594_*1595del NP_001341712.1:n.*1594_*1595del
NM_001354784.1:c.*1594_*1595del NP_001341713.1:n.*1594_*1595del
NM_004346.4:c.*1430_*1431del MANE Select NP_004337.2:n.*1430_*1431del
NM_001354777.2:c.*1430_*1431del NP_001341706.1:n.*1430_*1431del
NM_001354779.2:c.*1430_*1431del NP_001341708.1:n.*1430_*1431del
NM_001354780.2:c.*1430_*1431del NP_001341709.1:n.*1430_*1431del
NM_001354781.2:c.*1594_*1595del NP_001341710.1:n.*1594_*1595del
NM_001354782.2:c.*1594_*1595del NP_001341711.1:n.*1594_*1595del
NM_001354783.2:c.*1594_*1595del NP_001341712.1:n.*1594_*1595del
NM_001354784.2:c.*1594_*1595del NP_001341713.1:n.*1594_*1595del
NM_032991.3:c.*1430_*1431del NP_116786.1:n.*1430_*1431del