Canonical Allele Identifier: CA1879911940

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127666436_127666437delinsCA , CM000671.2:g.127666436_127666437delinsCA	GRCh38
NC_000009.11:g.130428715_130428716delinsCA , CM000671.1:g.130428715_130428716delinsCA	GRCh37
NC_000009.10:g.129468536_129468537delinsCA	NCBI36
NG_016623.1:g.59230_59231delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.752+140_752+141delinsCA	ENSP00000515991.1:n.752+140_752+141delinsCA
ENST00000704681.1:c.794+140_794+141delinsCA	ENSP00000515992.1:n.794+140_794+141delinsCA
ENST00000373299.5:c.794+140_794+141delinsCA MANE Select	ENSP00000362396.2:n.794+140_794+141delinsCA
ENST00000373302.8:c.794+140_794+141delinsCA MANE Plus Clinical	ENSP00000362399.3:n.794+140_794+141delinsCA
ENST00000626539.3:c.752+140_752+141delinsCA	ENSP00000487211.2:n.752+140_752+141delinsCA
ENST00000635950.2:c.794+140_794+141delinsCA	ENSP00000490903.1:n.794+140_794+141delinsCA
ENST00000636509.2:c.752+140_752+141delinsCA	ENSP00000490810.1:n.752+140_752+141delinsCA
ENST00000636962.2:c.794+140_794+141delinsCA	ENSP00000489762.1:n.794+140_794+141delinsCA
ENST00000637060.2:c.*436+140_*436+141delinsCA	ENSP00000490674.2:n.*436+140_*436+141delinsCA
ENST00000637173.2:c.752+140_752+141delinsCA	ENSP00000490519.1:n.752+140_752+141delinsCA
ENST00000637464.2:c.*1658+140_*1658+141delinsCA	ENSP00000489655.2:n.*1658+140_*1658+141delinsCA
ENST00000637521.2:c.752+140_752+141delinsCA	ENSP00000489791.1:n.752+140_752+141delinsCA
ENST00000637953.1:c.794+140_794+141delinsCA	ENSP00000490613.1:n.794+140_794+141delinsCA
ENST00000647107.1:c.736+140_736+141delinsCA
ENST00000650920.1:c.752+140_752+141delinsCA	ENSP00000498834.1:n.752+140_752+141delinsCA
ENST00000373299.4:c.794+140_794+141delinsCA	ENSP00000362396.1:n.794+140_794+141delinsCA
ENST00000373302.7:c.794+140_794+141delinsCA	ENSP00000362399.3:n.794+140_794+141delinsCA
ENST00000626416.2:n.630+140_630+141delinsCA
NM_001032221.3:c.794+140_794+141delinsCA	NP_001027392.1:n.794+140_794+141delinsCA
NM_003165.3:c.794+140_794+141delinsCA	NP_003156.1:n.794+140_794+141delinsCA
NM_001032221.6:c.794+140_794+141delinsCA MANE Select	NP_001027392.1:n.794+140_794+141delinsCA
NM_001374306.2:c.785+140_785+141delinsCA	NP_001361235.1:n.785+140_785+141delinsCA
NM_001374307.2:c.752+140_752+141delinsCA	NP_001361236.1:n.752+140_752+141delinsCA
NM_001374308.2:c.752+140_752+141delinsCA	NP_001361237.1:n.752+140_752+141delinsCA
NM_001374309.2:c.752+140_752+141delinsCA	NP_001361238.1:n.752+140_752+141delinsCA
NM_001374310.2:c.752+140_752+141delinsCA	NP_001361239.1:n.752+140_752+141delinsCA
NM_001374311.2:c.752+140_752+141delinsCA	NP_001361240.1:n.752+140_752+141delinsCA
NM_001374312.2:c.752+140_752+141delinsCA	NP_001361241.1:n.752+140_752+141delinsCA
NM_001374313.2:c.794+140_794+141delinsCA	NP_001361242.1:n.794+140_794+141delinsCA
NM_001374314.1:c.794+140_794+141delinsCA	NP_001361243.1:n.794+140_794+141delinsCA
NM_001374315.2:c.794+140_794+141delinsCA	NP_001361244.1:n.794+140_794+141delinsCA
NM_003165.6:c.794+140_794+141delinsCA MANE Plus Clinical	NP_003156.1:n.794+140_794+141delinsCA