Linked Data
gnomAD v4:
1-149925869-GAGGATGTGAGTGTCCATGACC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149925877_149925897del , CM000663.2:g.149925877_149925897del | GRCh38 |
| NC_000001.10:g.149897769_149897789del , CM000663.1:g.149897769_149897789del | GRCh37 |
| NC_000001.9:g.148164393_148164413del | NCBI36 |
| NG_032777.1:g.7363_7383del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.859_879del MANE Select | ENSP00000271628.8:p.Gly287_Pro293del | |
| ENST00000271628.8:c.859_879del | ENSP00000271628.8:p.Gly287_Pro293del | |
| NM_005850.4:c.859_879del | NP_005841.1:p.Gly287_Pro293del | |
| NM_005850.5:c.859_879del MANE Select | NP_005841.1:p.Gly287_Pro293del |