Linked Data
gnomAD v4:
7-152675911-CGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152675915_152675916del , CM000669.2:g.152675915_152675916del | GRCh38 |
| NC_000007.13:g.152373000_152373001del , CM000669.1:g.152373000_152373001del | GRCh37 |
| NC_000007.12:g.152003933_152003934del | NCBI36 |
| NG_027988.1:g.5253_5254del | |
| NG_027988.2:g.5253_5254del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-48+128_-48+129del | ENSP00000513758.1:n.-48+128_-48+129del | |
| ENST00000698507.1:n.107+128_107+129del | ||
| ENST00000359321.2:c.39+128_39+129del MANE Select | ENSP00000352271.1:n.39+128_39+129del | |
| ENST00000359321.1:c.39+128_39+129del | ENSP00000352271.1:n.39+128_39+129del | |
| NM_005431.1:c.39+128_39+129del | NP_005422.1:n.39+128_39+129del | |
| NM_005431.2:c.39+128_39+129del MANE Select | NP_005422.1:n.39+128_39+129del |