Canonical Allele Identifier: CA2785992198

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127672120_127672121insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG , CM000671.2:g.127672120_127672121insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	GRCh38
NC_000009.11:g.130434399_130434400insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG , CM000671.1:g.130434399_130434400insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	GRCh37
NC_000009.10:g.129474220_129474221insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NCBI36
NG_016623.1:g.64914_64915insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000515991.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTG...
ENST00000704681.1:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000515992.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000373299.5:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG MANE Select	ENSP00000362396.2:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000373302.8:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG MANE Plus Clinical	ENSP00000362399.3:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000626539.3:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000487211.2:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTG...
ENST00000635950.2:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000490903.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000636509.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000490810.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTG...
ENST00000636962.2:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000489762.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000637060.2:c.*671+4_*671+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000490674.2:n.*671+4_*671+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000637173.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000490519.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTG...
ENST00000637464.2:c.*1893+4_*1893+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000489655.2:n.*1893+4_*1893+5insCCTGGTGGAGCCACTGGTGCTGA...
ENST00000637521.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000489791.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTG...
ENST00000637953.1:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000490613.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000647107.1:c.971+4_971+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG
ENST00000650920.1:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000498834.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTG...
ENST00000373299.4:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000362396.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000373302.7:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	ENSP00000362399.3:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGC...
ENST00000626416.2:n.865+4_865+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG
NM_001032221.3:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001027392.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGA...
NM_003165.3:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_003156.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGT...
NM_001032221.6:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG MANE Select	NP_001027392.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGA...
NM_001374306.2:c.1020+4_1020+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361235.1:n.1020+4_1020+5insCCTGGTGGAGCCACTGGTGCTGAGCTGA...
NM_001374307.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361236.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACG...
NM_001374308.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361237.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACG...
NM_001374309.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361238.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACG...
NM_001374310.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361239.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACG...
NM_001374311.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361240.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACG...
NM_001374312.2:c.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361241.1:n.987+4_987+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACG...
NM_001374313.2:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361242.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGA...
NM_001374314.1:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361243.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGA...
NM_001374315.2:c.921+4_921+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG	NP_001361244.1:n.921+4_921+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACG...
NM_003165.6:c.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGTG MANE Plus Clinical	NP_003156.1:n.1029+4_1029+5insCCTGGTGGAGCCACTGGTGCTGAGCTGACGT...