Canonical Allele Identifier: CA557399635

Gene: CASP3

Linked Data

• dbSNP Id: rs1235151943
• gnomAD v2: 4-185552905-CAGTT-C
• gnomAD v3: 4-184631751-CAGTT-C
• gnomAD v4: 4-184631751-CAGTT-C
• MyVariant Identifiers: chr4:g.185552906_185552909del (hg19) ; chr4:g.184631752_184631755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184631754_184631757del , CM000666.2:g.184631754_184631757del	GRCh38
NC_000004.11:g.185552908_185552911del , CM000666.1:g.185552908_185552911del	GRCh37
NC_000004.10:g.185789902_185789905del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.483+10_483+13del	ENSP00000514797.1:n.483+10_483+13del
ENST00000700101.1:c.483+10_483+13del	ENSP00000514798.1:n.483+10_483+13del
ENST00000700102.1:n.551+10_551+13del
ENST00000700103.1:n.3448+10_3448+13del
ENST00000700104.1:c.*232+10_*232+13del	ENSP00000514799.1:n.*232+10_*232+13del
ENST00000308394.9:c.483+10_483+13del MANE Select	ENSP00000311032.4:n.483+10_483+13del
ENST00000308394.8:c.483+10_483+13del	ENSP00000311032.4:n.483+10_483+13del
ENST00000393585.6:c.483+10_483+13del	ENSP00000377210.2:n.483+10_483+13del
ENST00000393588.8:c.483+10_483+13del	ENSP00000377213.4:n.483+10_483+13del
ENST00000517513.5:c.483+10_483+13del	ENSP00000428372.1:n.483+10_483+13del
ENST00000523916.5:c.483+10_483+13del	ENSP00000428929.1:n.483+10_483+13del
ENST00000613118.4:c.*37+10_*37+13del	ENSP00000478339.1:n.*37+10_*37+13del
NM_004346.3:c.483+10_483+13del	NP_004337.2:n.483+10_483+13del
NM_032991.2:c.483+10_483+13del	NP_116786.1:n.483+10_483+13del
XM_011532301.1:c.483+10_483+13del	XP_011530603.1:n.483+10_483+13del
NM_001354777.1:c.483+10_483+13del	NP_001341706.1:n.483+10_483+13del
NM_001354779.1:c.405+10_405+13del	NP_001341708.1:n.405+10_405+13del
NM_001354780.1:c.405+10_405+13del	NP_001341709.1:n.405+10_405+13del
NM_001354781.1:c.483+10_483+13del	NP_001341710.1:n.483+10_483+13del
NM_001354782.1:c.483+10_483+13del	NP_001341711.1:n.483+10_483+13del
NM_001354783.1:c.510+10_510+13del	NP_001341712.1:n.510+10_510+13del
NM_001354784.1:c.405+10_405+13del	NP_001341713.1:n.405+10_405+13del
NM_004346.4:c.483+10_483+13del MANE Select	NP_004337.2:n.483+10_483+13del
NM_001354777.2:c.483+10_483+13del	NP_001341706.1:n.483+10_483+13del
NM_001354779.2:c.405+10_405+13del	NP_001341708.1:n.405+10_405+13del
NM_001354780.2:c.405+10_405+13del	NP_001341709.1:n.405+10_405+13del
NM_001354781.2:c.483+10_483+13del	NP_001341710.1:n.483+10_483+13del
NM_001354782.2:c.483+10_483+13del	NP_001341711.1:n.483+10_483+13del
NM_001354783.2:c.510+10_510+13del	NP_001341712.1:n.510+10_510+13del
NM_001354784.2:c.405+10_405+13del	NP_001341713.1:n.405+10_405+13del
NM_032991.3:c.483+10_483+13del	NP_116786.1:n.483+10_483+13del