Canonical Allele Identifier: CA2510228229

Gene: CASP3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184628953_184628954insAA , CM000666.2:g.184628953_184628954insAA	GRCh38
NC_000004.11:g.185550107_185550108insAA , CM000666.1:g.185550107_185550108insAA	GRCh37
NC_000004.10:g.185787101_185787102insAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700100.1:c.*318_*319insTT	ENSP00000514797.1:n.*318_*319insTT
ENST00000700101.1:c.*318_*319insTT	ENSP00000514798.1:n.*318_*319insTT
ENST00000700102.1:n.2755_2756insTT
ENST00000700103.1:n.4117_4118insTT
ENST00000700104.1:c.*901_*902insTT	ENSP00000514799.1:n.*901_*902insTT
ENST00000308394.9:c.*318_*319insTT MANE Select	ENSP00000311032.4:n.*318_*319insTT
ENST00000308394.8:c.*318_*319insTT	ENSP00000311032.4:n.*318_*319insTT
ENST00000393585.6:c.*482_*483insTT	ENSP00000377210.2:n.*482_*483insTT
ENST00000523916.5:c.*318_*319insTT	ENSP00000428929.1:n.*318_*319insTT
ENST00000613118.4:c.*585_*586insTT	ENSP00000478339.1:n.*585_*586insTT
NM_004346.3:c.*318_*319insTT	NP_004337.2:n.*318_*319insTT
NM_032991.2:c.*318_*319insTT	NP_116786.1:n.*318_*319insTT
XM_011532301.1:c.*318_*319insTT	XP_011530603.1:n.*318_*319insTT
NM_001354777.1:c.*318_*319insTT	NP_001341706.1:n.*318_*319insTT
NM_001354779.1:c.*318_*319insTT	NP_001341708.1:n.*318_*319insTT
NM_001354780.1:c.*318_*319insTT	NP_001341709.1:n.*318_*319insTT
NM_001354781.1:c.*482_*483insTT	NP_001341710.1:n.*482_*483insTT
NM_001354782.1:c.*482_*483insTT	NP_001341711.1:n.*482_*483insTT
NM_001354783.1:c.*482_*483insTT	NP_001341712.1:n.*482_*483insTT
NM_001354784.1:c.*482_*483insTT	NP_001341713.1:n.*482_*483insTT
NM_004346.4:c.*318_*319insTT MANE Select	NP_004337.2:n.*318_*319insTT
NM_001354777.2:c.*318_*319insTT	NP_001341706.1:n.*318_*319insTT
NM_001354779.2:c.*318_*319insTT	NP_001341708.1:n.*318_*319insTT
NM_001354780.2:c.*318_*319insTT	NP_001341709.1:n.*318_*319insTT
NM_001354781.2:c.*482_*483insTT	NP_001341710.1:n.*482_*483insTT
NM_001354782.2:c.*482_*483insTT	NP_001341711.1:n.*482_*483insTT
NM_001354783.2:c.*482_*483insTT	NP_001341712.1:n.*482_*483insTT
NM_001354784.2:c.*482_*483insTT	NP_001341713.1:n.*482_*483insTT
NM_032991.3:c.*318_*319insTT	NP_116786.1:n.*318_*319insTT