Linked Data
gnomAD v4:
2-218814295-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814296del , CM000664.2:g.218814296del | GRCh38 |
| NC_000002.11:g.219679019del , CM000664.1:g.219679019del | GRCh37 |
| NC_000002.10:g.219387263del | NCBI36 |
| NG_007959.1:g.37548del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1185-84del MANE Select | ENSP00000258415.4:n.1185-84del | |
| ENST00000258415.8:c.1185-84del | ENSP00000258415.4:n.1185-84del | |
| ENST00000494263.5:n.1727del | ||
| NM_000784.3:c.1185-84del | NP_000775.1:n.1185-84del | |
| XM_017003488.2:c.765-84del | XP_016858977.1:n.765-84del | |
| NM_000784.4:c.1185-84del MANE Select | NP_000775.1:n.1185-84del |