Canonical Allele Identifier: CA2695211364

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127668178_127668179del , CM000671.2:g.127668178_127668179del	GRCh38
NC_000009.11:g.130430457_130430458del , CM000671.1:g.130430457_130430458del	GRCh37
NC_000009.10:g.129470278_129470279del	NCBI36
NG_016623.1:g.60972_60973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.851_852del	ENSP00000515991.1:p.Glu284GlyfsTer15
ENST00000704681.1:c.893_894del	ENSP00000515992.1:p.Glu298GlyfsTer15
ENST00000373299.5:c.893_894del MANE Select	ENSP00000362396.2:p.Glu298GlyfsTer15
ENST00000373302.8:c.893_894del MANE Plus Clinical	ENSP00000362399.3:p.Glu298GlyfsTer15
ENST00000626539.3:c.851_852del	ENSP00000487211.2:p.Glu284GlyfsTer15
ENST00000635950.2:c.893_894del	ENSP00000490903.1:p.Glu298GlyfsTer15
ENST00000636509.2:c.851_852del	ENSP00000490810.1:p.Glu284GlyfsTer15
ENST00000636962.2:c.893_894del	ENSP00000489762.1:p.Glu298GlyfsTer15
ENST00000637060.2:c.*535_*536del	ENSP00000490674.2:n.*535_*536del
ENST00000637173.2:c.851_852del	ENSP00000490519.1:p.Glu284GlyfsTer15
ENST00000637464.2:c.*1757_*1758del	ENSP00000489655.2:n.*1757_*1758del
ENST00000637521.2:c.851_852del	ENSP00000489791.1:p.Glu284GlyfsTer15
ENST00000637953.1:c.893_894del	ENSP00000490613.1:p.Glu298GlyfsTer15
ENST00000647107.1:c.835_836del
ENST00000650920.1:c.851_852del	ENSP00000498834.1:p.Glu284GlyfsTer15
ENST00000373299.4:c.893_894del	ENSP00000362396.1:p.Glu298GlyfsTer15
ENST00000373302.7:c.893_894del	ENSP00000362399.3:p.Glu298GlyfsTer15
ENST00000626416.2:n.729_730del
NM_001032221.3:c.893_894del	NP_001027392.1:p.Glu298GlyfsTer15
NM_003165.3:c.893_894del	NP_003156.1:p.Glu298GlyfsTer15
NM_001032221.6:c.893_894del MANE Select	NP_001027392.1:p.Glu298GlyfsTer15
NM_001374306.2:c.884_885del	NP_001361235.1:p.Glu295GlyfsTer15
NM_001374307.2:c.851_852del	NP_001361236.1:p.Glu284GlyfsTer15
NM_001374308.2:c.851_852del	NP_001361237.1:p.Glu284GlyfsTer15
NM_001374309.2:c.851_852del	NP_001361238.1:p.Glu284GlyfsTer15
NM_001374310.2:c.851_852del	NP_001361239.1:p.Glu284GlyfsTer15
NM_001374311.2:c.851_852del	NP_001361240.1:p.Glu284GlyfsTer15
NM_001374312.2:c.851_852del	NP_001361241.1:p.Glu284GlyfsTer15
NM_001374313.2:c.893_894del	NP_001361242.1:p.Glu298GlyfsTer15
NM_001374314.1:c.893_894del	NP_001361243.1:p.Glu298GlyfsTer15
NM_001374315.2:c.795-1720_795-1719del	NP_001361244.1:n.795-1720_795-1719del
NM_003165.6:c.893_894del MANE Plus Clinical	NP_003156.1:p.Glu298GlyfsTer15