Canonical Allele Identifier: CA521282979

Gene: CASP9

Linked Data

• dbSNP Id: rs1337479013
• gnomAD v2: 1-15834373-CT-C
• gnomAD v4: 1-15507878-CT-C
• MyVariant Identifiers: chr1:g.15834374del (hg19) ; chr1:g.15507879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15507879del , CM000663.2:g.15507879del	GRCh38
NC_000001.10:g.15834374del , CM000663.1:g.15834374del	GRCh37
NC_000001.9:g.15706961del	NCBI36
NG_029188.1:g.21912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333868.10:c.447del MANE Select	ENSP00000330237.5:p.Asp150IlefsTer6
ENST00000333868.9:c.447del	ENSP00000330237.5:p.Asp150IlefsTer6
ENST00000348549.9:c.418+10231del	ENSP00000255256.7:n.418+10231del
ENST00000375890.8:c.198del	ENSP00000365051.4:p.Asp67IlefsTer6
ENST00000400777.7:c.439del
ENST00000440484.1:c.447del	ENSP00000411304.1:p.Asp150IlefsTer6
ENST00000447522.5:c.198del	ENSP00000396540.1:p.Asp67IlefsTer6
ENST00000474305.2:c.307del	ENSP00000449216.1:n.307del
ENST00000546424.5:c.447del	ENSP00000449584.1:p.Asp150IlefsTer6
ENST00000546969.1:n.462del
NM_001229.4:c.447del	NP_001220.2:p.Asp150IlefsTer6
NM_001278054.1:c.418+10231del	NP_001264983.1:n.418+10231del
NM_032996.3:c.198del	NP_127463.2:p.Asp67IlefsTer6
NR_102732.1:n.692del
NR_102733.1:n.552del
XM_005246014.2:c.198del	XP_005246071.1:p.Asp67IlefsTer6
XM_011542270.1:c.447del	XP_011540572.1:p.Asp150IlefsTer6
XM_011542271.1:c.198del	XP_011540573.1:p.Asp67IlefsTer6
XM_011542272.1:c.198del	XP_011540574.1:p.Asp67IlefsTer6
XM_011542273.1:c.447del	XP_011540575.1:p.Asp150IlefsTer6
XR_946778.1:n.612del
XM_011542273.3:c.447del	XP_011540575.1:p.Asp150IlefsTer6
NM_001229.5:c.447del MANE Select	NP_001220.2:p.Asp150IlefsTer6
NM_001278054.2:c.418+10231del	NP_001264983.1:n.418+10231del
NR_102732.2:n.462del
NR_102733.2:n.322del