Linked Data
ClinVar Variation Id:
365061
ClinVar RCV Id:
RCV000321326
dbSNP Id:
rs376502400
gnomAD v2:
9-130453944-CAGTT-C
gnomAD v3:
9-127691665-CAGTT-C
gnomAD v4:
9-127691665-CAGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127691669_127691672del , CM000671.2:g.127691669_127691672del | GRCh38 |
| NC_000009.11:g.130453948_130453951del , CM000671.1:g.130453948_130453951del | GRCh37 |
| NC_000009.10:g.129493769_129493772del | NCBI36 |
| NG_016623.1:g.84463_84466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704680.1:c.*812_*815del (STXBP1) | ENSP00000515991.1:n.*812_*815del | |
| ENST00000704681.1:c.2668_2671del (STXBP1) | ENSP00000515992.1:n.2668_2671del | |
| ENST00000373299.5:c.*812_*815del (STXBP1) MANE Select | ENSP00000362396.2:n.*812_*815del | |
| ENST00000373302.8:c.*911_*914del (STXBP1) MANE Plus Clinical | ENSP00000362399.3:n.*911_*914del | |
| ENST00000626539.3:c.*812_*815del (STXBP1) | ENSP00000487211.2:n.*812_*815del | |
| ENST00000635950.2:c.1703-3325_1703-3322del (STXBP1) | ENSP00000490903.1:n.1703-3325_1703-3322del | |
| ENST00000636509.2:c.*1552_*1555del (STXBP1) | ENSP00000490810.1:n.*1552_*1555del | |
| ENST00000636962.2:c.1703-3325_1703-3322del (STXBP1) | ENSP00000489762.1:n.1703-3325_1703-3322del | |
| ENST00000637060.2:c.*2239_*2242del (STXBP1) | ENSP00000490674.2:n.*2239_*2242del | |
| ENST00000637173.2:c.*812_*815del (STXBP1) | ENSP00000490519.1:n.*812_*815del | |
| ENST00000637464.2:c.*3461_*3464del (STXBP1) | ENSP00000489655.2:n.*3461_*3464del | |
| ENST00000637953.1:c.*943_*946del (STXBP1) | ENSP00000490613.1:n.*943_*946del | |
| ENST00000641641.1:c.34-845_34-842del (PTRH1) | ENSP00000492921.1:n.34-845_34-842del | |
| ENST00000650920.1:c.*911_*914del (STXBP1) | ENSP00000498834.1:n.*911_*914del | |
| ENST00000373299.4:c.*812_*815del (STXBP1) | ENSP00000362396.1:n.*812_*815del | |
| ENST00000373302.7:c.*911_*914del (STXBP1) | ENSP00000362399.3:n.*911_*914del | |
| ENST00000626416.2:n.2433_2436del (STXBP1) | ||
| ENST00000628768.1:n.1536_1539del (STXBP1) | ||
| NM_001032221.3:c.*812_*815del (STXBP1) | NP_001027392.1:n.*812_*815del | |
| NM_003165.3:c.*911_*914del (STXBP1) | NP_003156.1:n.*911_*914del | |
| NM_001032221.6:c.*812_*815del (STXBP1) MANE Select | NP_001027392.1:n.*812_*815del | |
| NM_001374306.2:c.*812_*815del (STXBP1) | NP_001361235.1:n.*812_*815del | |
| NM_001374307.2:c.*911_*914del (STXBP1) | NP_001361236.1:n.*911_*914del | |
| NM_001374308.2:c.*911_*914del (STXBP1) | NP_001361237.1:n.*911_*914del | |
| NM_001374309.2:c.*812_*815del (STXBP1) | NP_001361238.1:n.*812_*815del | |
| NM_001374310.2:c.*812_*815del (STXBP1) | NP_001361239.1:n.*812_*815del | |
| NM_001374311.2:c.*812_*815del (STXBP1) | NP_001361240.1:n.*812_*815del | |
| NM_001374312.2:c.*812_*815del (STXBP1) | NP_001361241.1:n.*812_*815del | |
| NM_001374313.2:c.*943_*946del (STXBP1) | NP_001361242.1:n.*943_*946del | |
| NM_001374314.1:c.1703-3325_1703-3322del (STXBP1) | NP_001361243.1:n.1703-3325_1703-3322del | |
| NM_001374315.2:c.*911_*914del (STXBP1) | NP_001361244.1:n.*911_*914del | |
| NM_003165.6:c.*911_*914del (STXBP1) MANE Plus Clinical | NP_003156.1:n.*911_*914del |