Canonical Allele Identifier: CA16618739
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422789
ClinVar RCV Id: RCV000484057
dbSNP Id: rs1064795999
MyVariant Identifiers: chr9:g.130428490_130428496del (hg19) chr9:g.127666211_127666217del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127666211_127666217del , CM000671.2:g.127666211_127666217del GRCh38
NC_000009.11:g.130428490_130428496del , CM000671.1:g.130428490_130428496del GRCh37
NC_000009.10:g.129468311_129468317del NCBI36
NG_016623.1:g.59005_59011del

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.667_673del ENSP00000515991.1:p.Phe223ProfsTer9
ENST00000704681.1:c.709_715del ENSP00000515992.1:p.Phe237ProfsTer9
ENST00000373299.5:c.709_715del MANE Select ENSP00000362396.2:p.Phe237ProfsTer9
ENST00000373302.8:c.709_715del MANE Plus Clinical ENSP00000362399.3:p.Phe237ProfsTer9
ENST00000626539.3:c.667_673del ENSP00000487211.2:p.Phe223ProfsTer9
ENST00000635950.2:c.709_715del ENSP00000490903.1:p.Phe237ProfsTer9
ENST00000636509.2:c.667_673del ENSP00000490810.1:p.Phe223ProfsTer9
ENST00000636962.2:c.709_715del ENSP00000489762.1:p.Phe237ProfsTer9
ENST00000637060.2:c.*351_*357del ENSP00000490674.2:n.*351_*357del
ENST00000637173.2:c.667_673del ENSP00000490519.1:p.Phe223ProfsTer9
ENST00000637464.2:c.*1573_*1579del ENSP00000489655.2:n.*1573_*1579del
ENST00000637521.2:c.667_673del ENSP00000489791.1:p.Phe223ProfsTer9
ENST00000637953.1:c.709_715del ENSP00000490613.1:p.Phe237ProfsTer9
ENST00000647107.1:c.651_657del
ENST00000650920.1:c.667_673del ENSP00000498834.1:p.Phe223ProfsTer9
ENST00000373299.4:c.709_715del ENSP00000362396.1:p.Phe237ProfsTer9
ENST00000373302.7:c.709_715del ENSP00000362399.3:p.Phe237ProfsTer9
ENST00000626416.2:n.545_551del
NM_001032221.3:c.709_715del NP_001027392.1:p.Phe237ProfsTer9
NM_003165.3:c.709_715del NP_003156.1:p.Phe237ProfsTer9
NM_001032221.6:c.709_715del MANE Select NP_001027392.1:p.Phe237ProfsTer9
NM_001374306.2:c.700_706del NP_001361235.1:p.Phe234ProfsTer9
NM_001374307.2:c.667_673del NP_001361236.1:p.Phe223ProfsTer9
NM_001374308.2:c.667_673del NP_001361237.1:p.Phe223ProfsTer9
NM_001374309.2:c.667_673del NP_001361238.1:p.Phe223ProfsTer9
NM_001374310.2:c.667_673del NP_001361239.1:p.Phe223ProfsTer9
NM_001374311.2:c.667_673del NP_001361240.1:p.Phe223ProfsTer9
NM_001374312.2:c.667_673del NP_001361241.1:p.Phe223ProfsTer9
NM_001374313.2:c.709_715del NP_001361242.1:p.Phe237ProfsTer9
NM_001374314.1:c.709_715del NP_001361243.1:p.Phe237ProfsTer9
NM_001374315.2:c.709_715del NP_001361244.1:p.Phe237ProfsTer9
NM_003165.6:c.709_715del MANE Plus Clinical NP_003156.1:p.Phe237ProfsTer9
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