Canonical Allele Identifier: CA2579458774

Gene: STXBP1

Linked Data

• gnomAD v4: 9-127676040-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127676041_127676042del , CM000671.2:g.127676041_127676042del	GRCh38
NC_000009.11:g.130438320_130438321del , CM000671.1:g.130438320_130438321del	GRCh37
NC_000009.10:g.129478141_129478142del	NCBI36
NG_016623.1:g.68835_68836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1207+99_1207+100del	ENSP00000515991.1:n.1207+99_1207+100del
ENST00000704681.1:c.1194+154_1194+155del	ENSP00000515992.1:n.1194+154_1194+155del
ENST00000373299.5:c.1249+99_1249+100del MANE Select	ENSP00000362396.2:n.1249+99_1249+100del
ENST00000373302.8:c.1249+99_1249+100del MANE Plus Clinical	ENSP00000362399.3:n.1249+99_1249+100del
ENST00000626539.3:c.1207+99_1207+100del	ENSP00000487211.2:n.1207+99_1207+100del
ENST00000635950.2:c.1249+99_1249+100del	ENSP00000490903.1:n.1249+99_1249+100del
ENST00000636509.2:c.*204+99_*204+100del	ENSP00000490810.1:n.*204+99_*204+100del
ENST00000636962.2:c.1249+99_1249+100del	ENSP00000489762.1:n.1249+99_1249+100del
ENST00000637060.2:c.*891+99_*891+100del	ENSP00000490674.2:n.*891+99_*891+100del
ENST00000637173.2:c.1207+99_1207+100del	ENSP00000490519.1:n.1207+99_1207+100del
ENST00000637464.2:c.*2113+99_*2113+100del	ENSP00000489655.2:n.*2113+99_*2113+100del
ENST00000637521.2:c.1207+99_1207+100del	ENSP00000489791.1:n.1207+99_1207+100del
ENST00000637953.1:c.1249+99_1249+100del	ENSP00000490613.1:n.1249+99_1249+100del
ENST00000647107.1:c.1191+99_1191+100del
ENST00000650920.1:c.1207+99_1207+100del	ENSP00000498834.1:n.1207+99_1207+100del
ENST00000373299.4:c.1249+99_1249+100del	ENSP00000362396.1:n.1249+99_1249+100del
ENST00000373302.7:c.1249+99_1249+100del	ENSP00000362399.3:n.1249+99_1249+100del
ENST00000626416.2:n.1085+99_1085+100del
NM_001032221.3:c.1249+99_1249+100del	NP_001027392.1:n.1249+99_1249+100del
NM_003165.3:c.1249+99_1249+100del	NP_003156.1:n.1249+99_1249+100del
NM_001032221.6:c.1249+99_1249+100del MANE Select	NP_001027392.1:n.1249+99_1249+100del
NM_001374306.2:c.1240+99_1240+100del	NP_001361235.1:n.1240+99_1240+100del
NM_001374307.2:c.1207+99_1207+100del	NP_001361236.1:n.1207+99_1207+100del
NM_001374308.2:c.1207+99_1207+100del	NP_001361237.1:n.1207+99_1207+100del
NM_001374309.2:c.1207+99_1207+100del	NP_001361238.1:n.1207+99_1207+100del
NM_001374310.2:c.1207+99_1207+100del	NP_001361239.1:n.1207+99_1207+100del
NM_001374311.2:c.1207+99_1207+100del	NP_001361240.1:n.1207+99_1207+100del
NM_001374312.2:c.1207+99_1207+100del	NP_001361241.1:n.1207+99_1207+100del
NM_001374313.2:c.1249+99_1249+100del	NP_001361242.1:n.1249+99_1249+100del
NM_001374314.1:c.1249+99_1249+100del	NP_001361243.1:n.1249+99_1249+100del
NM_001374315.2:c.1141+99_1141+100del	NP_001361244.1:n.1141+99_1141+100del
NM_003165.6:c.1249+99_1249+100del MANE Plus Clinical	NP_003156.1:n.1249+99_1249+100del