Linked Data
dbSNP Id:
rs1204250758
gnomAD v2:
15-89871975-TCTCTAAGGGAGGCCCCC-T
gnomAD v4:
15-89328744-TCTCTAAGGGAGGCCCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328747_89328763del , CM000677.2:g.89328747_89328763del | GRCh38 |
| NC_000015.9:g.89871978_89871994del , CM000677.1:g.89871978_89871994del | GRCh37 |
| NC_000015.8:g.87672982_87672998del | NCBI36 |
| NG_008218.1:g.11035_11051del | |
| NG_008218.2:g.11035_11051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1094_1110del | ENSP00000516154.1:p.Gly365GlufsTer17 | |
| ENST00000268124.11:c.1094_1110del MANE Select | ENSP00000268124.5:p.Gly365GlufsTer17 | |
| ENST00000530292.3:c.695_711del | ENSP00000432885.2:p.Gly232GlufsTer17 | |
| ENST00000635986.2:c.1094_1110del | ENSP00000490653.2:p.Gly365GlufsTer17 | |
| ENST00000636774.1:c.1094_1110del | ENSP00000489799.1:p.Gly365GlufsTer17 | |
| ENST00000637264.1:c.166_182del | ||
| ENST00000666746.1:c.751_767del | ||
| ENST00000672071.1:n.1292_1308del | ||
| ENST00000672923.2:n.91_107del | ||
| ENST00000268124.9:c.1094_1110del | ENSP00000268124.5:p.Gly365GlufsTer17 | |
| ENST00000442287.6:c.1094_1110del | ENSP00000399851.2:p.Gly365GlufsTer17 | |
| ENST00000631044.2:c.*477_*493del | ENSP00000486730.1:n.*477_*493del | |
| NM_001126131.1:c.1094_1110del | NP_001119603.1:p.Gly365GlufsTer17 | |
| NM_002693.2:c.1094_1110del | NP_002684.1:p.Gly365GlufsTer17 | |
| NM_001126131.2:c.1094_1110del | NP_001119603.1:p.Gly365GlufsTer17 | |
| NM_002693.3:c.1094_1110del MANE Select | NP_002684.1:p.Gly365GlufsTer17 |