Canonical Allele Identifier: CA1879925449
Gene: STXBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127682387_127682393delinsTTCTCTC , CM000671.2:g.127682387_127682393delinsTTCTCTC GRCh38
NC_000009.11:g.130444666_130444672delinsTTCTCTC , CM000671.1:g.130444666_130444672delinsTTCTCTC GRCh37
NC_000009.10:g.129484487_129484493delinsTTCTCTC NCBI36
NG_016623.1:g.75181_75187delinsTTCTCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.1506-19_1506-13delinsTTCTCTC ENSP00000515991.1:n.1506-19_1506-13delins...
ENST00000704681.1:c.1493-19_1493-13delinsTTCTCTC ENSP00000515992.1:n.1493-19_1493-13delins...
ENST00000373299.5:c.1548-19_1548-13delinsTTCTCTC MANE Select ENSP00000362396.2:n.1548-19_1548-13delins...
ENST00000373302.8:c.1548-19_1548-13delinsTTCTCTC MANE Plus Clinical ENSP00000362399.3:n.1548-19_1548-13delins...
ENST00000626539.3:c.1506-19_1506-13delinsTTCTCTC ENSP00000487211.2:n.1506-19_1506-13delins...
ENST00000635950.2:c.1548-19_1548-13delinsTTCTCTC ENSP00000490903.1:n.1548-19_1548-13delins...
ENST00000636509.2:c.*503-19_*503-13delinsTTCTCTC ENSP00000490810.1:n.*503-19_*503-13delins...
ENST00000636962.2:c.1548-19_1548-13delinsTTCTCTC ENSP00000489762.1:n.1548-19_1548-13delins...
ENST00000637060.2:c.*1190-19_*1190-13delinsTTCTCTC ENSP00000490674.2:n.*1190-19_*1190-13deli...
ENST00000637173.2:c.1506-19_1506-13delinsTTCTCTC ENSP00000490519.1:n.1506-19_1506-13delins...
ENST00000637464.2:c.*2412-19_*2412-13delinsTTCTCTC ENSP00000489655.2:n.*2412-19_*2412-13deli...
ENST00000637521.2:c.1506-19_1506-13delinsTTCTCTC ENSP00000489791.1:n.1506-19_1506-13delins...
ENST00000637953.1:c.1548-19_1548-13delinsTTCTCTC ENSP00000490613.1:n.1548-19_1548-13delins...
ENST00000647107.1:c.1490-19_1490-13delinsTTCTCTC
ENST00000650920.1:c.1506-19_1506-13delinsTTCTCTC ENSP00000498834.1:n.1506-19_1506-13delins...
ENST00000373299.4:c.1548-19_1548-13delinsTTCTCTC ENSP00000362396.1:n.1548-19_1548-13delins...
ENST00000373302.7:c.1548-19_1548-13delinsTTCTCTC ENSP00000362399.3:n.1548-19_1548-13delins...
ENST00000494254.3:c.96-19_96-13delinsTTCTCTC ENSP00000485397.1:n.96-19_96-13delinsTTCT...
ENST00000626416.2:n.1384-19_1384-13delinsTTCTCTC
ENST00000628638.1:n.140-19_140-13delinsTTCTCTC
NM_001032221.3:c.1548-19_1548-13delinsTTCTCTC NP_001027392.1:n.1548-19_1548-13delinsTTC...
NM_003165.3:c.1548-19_1548-13delinsTTCTCTC NP_003156.1:n.1548-19_1548-13delinsTTCTCT...
NM_001032221.6:c.1548-19_1548-13delinsTTCTCTC MANE Select NP_001027392.1:n.1548-19_1548-13delinsTTC...
NM_001374306.2:c.1539-19_1539-13delinsTTCTCTC NP_001361235.1:n.1539-19_1539-13delinsTTC...
NM_001374307.2:c.1506-19_1506-13delinsTTCTCTC NP_001361236.1:n.1506-19_1506-13delinsTTC...
NM_001374308.2:c.1506-19_1506-13delinsTTCTCTC NP_001361237.1:n.1506-19_1506-13delinsTTC...
NM_001374309.2:c.1506-19_1506-13delinsTTCTCTC NP_001361238.1:n.1506-19_1506-13delinsTTC...
NM_001374310.2:c.1506-19_1506-13delinsTTCTCTC NP_001361239.1:n.1506-19_1506-13delinsTTC...
NM_001374311.2:c.1506-19_1506-13delinsTTCTCTC NP_001361240.1:n.1506-19_1506-13delinsTTC...
NM_001374312.2:c.1506-19_1506-13delinsTTCTCTC NP_001361241.1:n.1506-19_1506-13delinsTTC...
NM_001374313.2:c.1548-19_1548-13delinsTTCTCTC NP_001361242.1:n.1548-19_1548-13delinsTTC...
NM_001374314.1:c.1548-19_1548-13delinsTTCTCTC NP_001361243.1:n.1548-19_1548-13delinsTTC...
NM_001374315.2:c.1440-19_1440-13delinsTTCTCTC NP_001361244.1:n.1440-19_1440-13delinsTTC...
NM_003165.6:c.1548-19_1548-13delinsTTCTCTC MANE Plus Clinical NP_003156.1:n.1548-19_1548-13delinsTTCTCT...