Linked Data
gnomAD v3:
1-215640844-C-CAAAAAAAAAAAAAAAAAA
gnomAD v4:
1-215640844-C-CAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640845_215640862dup , CM000663.2:g.215640845_215640862dup | GRCh38 |
| NC_000001.10:g.215814187_215814204dup , CM000663.1:g.215814187_215814204dup | GRCh37 |
| NC_000001.9:g.213880810_213880827dup | NCBI36 |
| NG_009497.1:g.787535_787552dup | |
| NG_009497.2:g.787587_787604dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14792-128_14792-111dup MANE Select | ENSP00000305941.3:n.14792-128_14792-111dup | |
| ENST00000674083.1:c.14792-128_14792-111dup | ENSP00000501296.1:n.14792-128_14792-111dup | |
| ENST00000307340.7:c.14792-128_14792-111dup | ENSP00000305941.3:n.14792-128_14792-111dup | |
| NM_206933.2:c.14792-128_14792-111dup | NP_996816.2:n.14792-128_14792-111dup | |
| NM_206933.3:c.14792-128_14792-111dup | NP_996816.2:n.14792-128_14792-111dup | |
| NM_206933.4:c.14792-128_14792-111dup MANE Select | NP_996816.3:n.14792-128_14792-111dup |