Canonical Allele Identifier: CA16042660
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373290
ClinVar RCV Id: RCV000413061
dbSNP Id: rs1057518331
MyVariant Identifiers: chr9:g.130374719_130374720del (hg19) chr9:g.127612440_127612441del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127612440_127612441del , CM000671.2:g.127612440_127612441del GRCh38
NC_000009.11:g.130374719_130374720del , CM000671.1:g.130374719_130374720del GRCh37
NC_000009.10:g.129414540_129414541del NCBI36
NG_016623.1:g.5234_5235del

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.-101_-101+1del
ENST00000704681.1:c.37_37+1del
ENST00000373299.5:c.37_37+1del
ENST00000373302.8:c.37_37+1del
ENST00000476182.3:c.37_37+1del
ENST00000626539.3:c.-6+393_-6+394del ENSP00000487211.2:n.-6+393_-6+394del
ENST00000635950.2:c.37_37+1del
ENST00000636509.2:c.-6+393_-6+394del ENSP00000490810.1:n.-6+393_-6+394del
ENST00000636962.2:c.37_37+1del
ENST00000637060.2:c.37_37+1del
ENST00000637173.2:c.-196_-196+1del
ENST00000637464.2:c.37_37+1del
ENST00000637521.2:c.-6+32906_-6+32907del ENSP00000489791.1:n.-6+32906_-6+32907del
ENST00000637953.1:c.37_37+1del
ENST00000650920.1:c.-196_-196+1del
ENST00000373299.4:c.37_37+1del
ENST00000373302.7:c.37_37+1del
ENST00000476182.2:n.30_30+1del
ENST00000625363.2:c.-6+584_-6+585del ENSP00000486944.1:n.-6+584_-6+585del
ENST00000626539.2:c.-6+393_-6+394del ENSP00000487211.1:n.-6+393_-6+394del
ENST00000627871.2:c.-73_-73+1del
ENST00000630492.2:c.-101_-101+1del
NM_001032221.3:c.37_37+1del
NM_003165.3:c.37_37+1del
NM_001032221.6:c.37_37+1del
NM_001374306.2:c.37_37+1del
NM_001374307.2:c.-101_-101+1del
NM_001374308.2:c.-196_-196+1del
NM_001374309.2:c.-6+393_-6+394del NP_001361238.1:n.-6+393_-6+394del
NM_001374310.2:c.-196_-196+1del
NM_001374311.2:c.-101_-101+1del
NM_001374312.2:c.-108_-108+1del
NM_001374313.2:c.37_37+1del
NM_001374314.1:c.37_37+1del
NM_001374315.2:c.37_37+1del
NM_003165.6:c.37_37+1del
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