Linked Data
dbSNP Id:
rs1845751402
gnomAD v3:
11-1753394-CAGTGGGCGGGCG-C
gnomAD v4:
11-1753394-CAGTGGGCGGGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753399_1753410del , CM000673.2:g.1753399_1753410del | GRCh38 |
| NC_000011.9:g.1774629_1774640del , CM000673.1:g.1774629_1774640del | GRCh37 |
| NC_000011.8:g.1731205_1731216del | NCBI36 |
| NG_008655.1:g.15587_15598del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.*97_*108del MANE Select | ENSP00000236671.2:n.*97_*108del | |
| ENST00000367196.4:c.*97_*108del | ENSP00000356164.4:n.*97_*108del | |
| ENST00000427721.3:c.634+127_634+138del | ||
| ENST00000429746.2:c.*97_*108del | ENSP00000402586.2:n.*97_*108del | |
| ENST00000433655.6:c.*502_*513del | ENSP00000404902.1:n.*502_*513del | |
| ENST00000438213.6:c.*97_*108del | ENSP00000415036.2:n.*97_*108del | |
| ENST00000636397.1:c.1071+397_1071+408del | ENSP00000489910.1:n.1071+397_1071+408del | |
| ENST00000636571.1:c.*97_*108del | ENSP00000490770.1:n.*97_*108del | |
| ENST00000636579.1:c.72+397_72+408del | ENSP00000490489.1:n.72+397_72+408del | |
| ENST00000636615.1:c.1071+397_1071+408del | ENSP00000490014.1:n.1071+397_1071+408del | |
| ENST00000636843.1:c.*97_*108del | ENSP00000490897.1:n.*97_*108del | |
| ENST00000637158.1:n.934_945del | ||
| ENST00000637381.2:n.3764_3775del | ||
| ENST00000637387.1:c.*97_*108del | ENSP00000490598.1:n.*97_*108del | |
| ENST00000637815.2:c.*97_*108del | ENSP00000490344.1:n.*97_*108del | |
| ENST00000637915.1:c.*97_*108del | ENSP00000490471.1:n.*97_*108del | |
| ENST00000637937.1:n.644_655del | ||
| ENST00000678991.1:c.*1197_*1208del | ENSP00000503019.1:n.*1197_*1208del | |
| ENST00000236671.6:c.*97_*108del | ENSP00000236671.2:n.*97_*108del | |
| ENST00000427721.2:c.471+397_471+408del | ENSP00000415840.2:n.471+397_471+408del | |
| ENST00000429746.1:c.667_678del | ENSP00000402586.1:n.667_678del | |
| ENST00000433655.5:c.*502_*513del | ENSP00000404902.1:n.*502_*513del | |
| NM_001909.4:c.*97_*108del | NP_001900.1:n.*97_*108del | |
| NM_001909.5:c.*97_*108del MANE Select | NP_001900.1:n.*97_*108del |