Canonical Allele Identifier: CA2573053093

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127661171_127661182del , CM000671.2:g.127661171_127661182del	GRCh38
NC_000009.11:g.130423450_130423461del , CM000671.1:g.130423450_130423461del	GRCh37
NC_000009.10:g.129463271_129463282del	NCBI36
NG_016623.1:g.53965_53976del

Transcript Alleles

HGVS	Amino-acid Change
NM_001032221.6:c.395_406del MANE Select	NP_001027392.1:p.Glu132_Ile135del
ENST00000373299.5:c.395_406del MANE Select	ENSP00000362396.2:p.Glu132_Ile135del
NM_003165.6:c.395_406del MANE Plus Clinical	NP_003156.1:p.Glu132_Ile135del
ENST00000373302.8:c.395_406del MANE Plus Clinical	ENSP00000362399.3:p.Glu132_Ile135del
NM_001032221.3:c.395_406del	NP_001027392.1:p.Glu132_Ile135del
NM_001374306.2:c.386_397del	NP_001361235.1:p.Glu129_Ile132del
NM_001374307.2:c.353_364del	NP_001361236.1:p.Glu118_Ile121del
NM_001374308.2:c.353_364del	NP_001361237.1:p.Glu118_Ile121del
NM_001374309.2:c.353_364del	NP_001361238.1:p.Glu118_Ile121del
NM_001374310.2:c.353_364del	NP_001361239.1:p.Glu118_Ile121del
NM_001374311.2:c.353_364del	NP_001361240.1:p.Glu118_Ile121del
NM_001374312.2:c.353_364del	NP_001361241.1:p.Glu118_Ile121del
NM_001374313.2:c.395_406del	NP_001361242.1:p.Glu132_Ile135del
NM_001374314.1:c.395_406del	NP_001361243.1:p.Glu132_Ile135del
NM_001374315.2:c.395_406del	NP_001361244.1:p.Glu132_Ile135del
NM_003165.3:c.395_406del	NP_003156.1:p.Glu132_Ile135del
ENST00000373299.4:c.395_406del	ENSP00000362396.1:p.Glu132_Ile135del
ENST00000373302.7:c.395_406del	ENSP00000362399.3:p.Glu132_Ile135del
ENST00000496504.3:c.39_50del
ENST00000625363.2:c.353_364del	ENSP00000486944.1:p.Glu118_Ile121del
ENST00000626333.1:c.353_364del	ENSP00000486814.1:p.Glu118_Ile121del
ENST00000626539.2:c.353_364del	ENSP00000487211.1:p.Glu118_Ile121del
ENST00000626539.3:c.353_364del	ENSP00000487211.2:p.Glu118_Ile121del
ENST00000627871.2:c.284_295del	ENSP00000485895.1:p.Glu95_Ile98del
ENST00000635950.2:c.395_406del	ENSP00000490903.1:p.Glu132_Ile135del
ENST00000636509.2:c.353_364del	ENSP00000490810.1:p.Glu118_Ile121del
ENST00000636962.2:c.395_406del	ENSP00000489762.1:p.Glu132_Ile135del
ENST00000637060.2:c.*37_*48del	ENSP00000490674.2:n.*37_*48del
ENST00000637173.2:c.353_364del	ENSP00000490519.1:p.Glu118_Ile121del
ENST00000637464.2:c.*1259_*1270del	ENSP00000489655.2:n.*1259_*1270del
ENST00000637521.2:c.353_364del	ENSP00000489791.1:p.Glu118_Ile121del
ENST00000637953.1:c.395_406del	ENSP00000490613.1:p.Glu132_Ile135del
ENST00000647107.1:c.337_348del
ENST00000650920.1:c.353_364del	ENSP00000498834.1:p.Glu118_Ile121del
ENST00000704680.1:c.353_364del	ENSP00000515991.1:p.Glu118_Ile121del
ENST00000704681.1:c.395_406del	ENSP00000515992.1:p.Glu132_Ile135del