Canonical Allele Identifier: CA2499219627

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 1298370
• ClinVar RCV Id: RCV001726700
• dbSNP Id: rs2131510168

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127675920_127675922del , CM000671.2:g.127675920_127675922del	GRCh38
NC_000009.11:g.130438199_130438201del , CM000671.1:g.130438199_130438201del	GRCh37
NC_000009.10:g.129478020_129478022del	NCBI36
NG_016623.1:g.68714_68716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1185_1187del	ENSP00000515991.1:p.Leu396del
ENST00000704681.1:c.1194+33_1194+35del	ENSP00000515992.1:n.1194+33_1194+35del
ENST00000373299.5:c.1227_1229del MANE Select	ENSP00000362396.2:p.Leu410del
ENST00000373302.8:c.1227_1229del MANE Plus Clinical	ENSP00000362399.3:p.Leu410del
ENST00000626539.3:c.1185_1187del	ENSP00000487211.2:p.Leu396del
ENST00000635950.2:c.1227_1229del	ENSP00000490903.1:p.Leu410del
ENST00000636509.2:c.*182_*184del	ENSP00000490810.1:n.*182_*184del
ENST00000636962.2:c.1227_1229del	ENSP00000489762.1:p.Leu410del
ENST00000637060.2:c.*869_*871del	ENSP00000490674.2:n.*869_*871del
ENST00000637173.2:c.1185_1187del	ENSP00000490519.1:p.Leu396del
ENST00000637464.2:c.*2091_*2093del	ENSP00000489655.2:n.*2091_*2093del
ENST00000637521.2:c.1185_1187del	ENSP00000489791.1:p.Leu396del
ENST00000637953.1:c.1227_1229del	ENSP00000490613.1:p.Leu410del
ENST00000647107.1:c.1169_1171del
ENST00000650920.1:c.1185_1187del	ENSP00000498834.1:p.Leu396del
ENST00000373299.4:c.1227_1229del	ENSP00000362396.1:p.Leu410del
ENST00000373302.7:c.1227_1229del	ENSP00000362399.3:p.Leu410del
ENST00000626416.2:n.1063_1065del
NM_001032221.3:c.1227_1229del	NP_001027392.1:p.Leu410del
NM_003165.3:c.1227_1229del	NP_003156.1:p.Leu410del
NM_001032221.6:c.1227_1229del MANE Select	NP_001027392.1:p.Leu410del
NM_001374306.2:c.1218_1220del	NP_001361235.1:p.Leu407del
NM_001374307.2:c.1185_1187del	NP_001361236.1:p.Leu396del
NM_001374308.2:c.1185_1187del	NP_001361237.1:p.Leu396del
NM_001374309.2:c.1185_1187del	NP_001361238.1:p.Leu396del
NM_001374310.2:c.1185_1187del	NP_001361239.1:p.Leu396del
NM_001374311.2:c.1185_1187del	NP_001361240.1:p.Leu396del
NM_001374312.2:c.1185_1187del	NP_001361241.1:p.Leu396del
NM_001374313.2:c.1227_1229del	NP_001361242.1:p.Leu410del
NM_001374314.1:c.1227_1229del	NP_001361243.1:p.Leu410del
NM_001374315.2:c.1119_1121del	NP_001361244.1:p.Leu374del
NM_003165.6:c.1227_1229del MANE Plus Clinical	NP_003156.1:p.Leu410del