Linked Data
gnomAD v4:
8-18400106-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400106_18400107insA , CM000670.2:g.18400106_18400107insA | GRCh38 |
| NC_000008.10:g.18257616_18257617insA , CM000670.1:g.18257616_18257617insA | GRCh37 |
| NC_000008.9:g.18301896_18301897insA | NCBI36 |
| NG_012246.1:g.13862_13863insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.103_104insA MANE Select | ENSP00000286479.3:p.Val35AspfsTer4 | |
| ENST00000286479.3:c.103_104insA | ENSP00000286479.3:p.Val35AspfsTer4 | |
| ENST00000520116.1:c.-57-231_-57-230insA | ENSP00000428416.1:n.-57-231_-57-230insA | |
| NM_000015.2:c.103_104insA | NP_000006.2:p.Val35AspfsTer4 | |
| XM_011544358.1:c.103_104insA | XP_011542660.1:p.Val35AspfsTer4 | |
| XM_017012938.1:c.103_104insA | XP_016868427.1:p.Val35AspfsTer4 | |
| NM_000015.3:c.103_104insA MANE Select | NP_000006.2:p.Val35AspfsTer4 |