Canonical Allele Identifier: CA16044321
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375520
ClinVar RCV Id: RCV000417033 RCV001268795
dbSNP Id: rs1057519538
MyVariant Identifiers: chr9:g.130413901_130413903del (hg19) chr9:g.127651622_127651624del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127651622_127651624del , CM000671.2:g.127651622_127651624del GRCh38
NC_000009.11:g.130413901_130413903del , CM000671.1:g.130413901_130413903del GRCh37
NC_000009.10:g.129453722_129453724del NCBI36
NG_016623.1:g.44416_44418del

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.15_17del ENSP00000515991.1:p.Ile5_Lys6delinsMet
ENST00000704681.1:c.57_59del ENSP00000515992.1:p.Ile19_Lys20delinsMet
ENST00000373299.5:c.57_59del MANE Select ENSP00000362396.2:p.Ile19_Lys20delinsMet
ENST00000373302.8:c.57_59del MANE Plus Clinical ENSP00000362399.3:p.Ile19_Lys20delinsMet
ENST00000626539.3:c.15_17del ENSP00000487211.2:p.Ile5_Lys6delinsMet
ENST00000635950.2:c.57_59del ENSP00000490903.1:p.Ile19_Lys20delinsMet
ENST00000636509.2:c.15_17del ENSP00000490810.1:p.Ile5_Lys6delinsMet
ENST00000636962.2:c.57_59del ENSP00000489762.1:p.Ile19_Lys20delinsMet
ENST00000637060.2:c.57_59del ENSP00000490674.2:p.Ile19_Lys20delinsMet
ENST00000637173.2:c.15_17del ENSP00000490519.1:p.Ile5_Lys6delinsMet
ENST00000637464.2:c.57_59del ENSP00000489655.2:p.Ile19_Lys20delinsMet
ENST00000637521.2:c.15_17del ENSP00000489791.1:p.Ile5_Lys6delinsMet
ENST00000637953.1:c.57_59del ENSP00000490613.1:p.Ile19_Lys20delinsMet
ENST00000650920.1:c.15_17del ENSP00000498834.1:p.Ile5_Lys6delinsMet
ENST00000373299.4:c.57_59del ENSP00000362396.1:p.Ile19_Lys20delinsMet
ENST00000373302.7:c.57_59del ENSP00000362399.3:p.Ile19_Lys20delinsMet
ENST00000625363.2:c.15_17del ENSP00000486944.1:p.Ile5_Lys6delinsMet
ENST00000626333.1:c.15_17del ENSP00000486814.1:p.Ile5_Lys6delinsMet
ENST00000626539.2:c.15_17del ENSP00000487211.1:p.Ile5_Lys6delinsMet
ENST00000627871.2:c.-55_-53del ENSP00000485895.1:n.-55_-53del
ENST00000630492.2:c.15_17del ENSP00000485680.1:p.Ile5_Lys6delinsMet
NM_001032221.3:c.57_59del NP_001027392.1:p.Ile19_Lys20delinsMet
NM_003165.3:c.57_59del NP_003156.1:p.Ile19_Lys20delinsMet
NM_001032221.6:c.57_59del MANE Select NP_001027392.1:p.Ile19_Lys20delinsMet
NM_001374306.2:c.57_59del NP_001361235.1:p.Ile19_Lys20delinsMet
NM_001374307.2:c.15_17del NP_001361236.1:p.Ile5_Lys6delinsMet
NM_001374308.2:c.15_17del NP_001361237.1:p.Ile5_Lys6delinsMet
NM_001374309.2:c.15_17del NP_001361238.1:p.Ile5_Lys6delinsMet
NM_001374310.2:c.15_17del NP_001361239.1:p.Ile5_Lys6delinsMet
NM_001374311.2:c.15_17del NP_001361240.1:p.Ile5_Lys6delinsMet
NM_001374312.2:c.15_17del NP_001361241.1:p.Ile5_Lys6delinsMet
NM_001374313.2:c.57_59del NP_001361242.1:p.Ile19_Lys20delinsMet
NM_001374314.1:c.57_59del NP_001361243.1:p.Ile19_Lys20delinsMet
NM_001374315.2:c.57_59del NP_001361244.1:p.Ile19_Lys20delinsMet
NM_003165.6:c.57_59del MANE Plus Clinical NP_003156.1:p.Ile19_Lys20delinsMet
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