Linked Data
gnomAD v4:
X-78118165-GGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118168_78118170del , CM000685.2:g.78118168_78118170del | GRCh38 |
| NC_000023.10:g.77373665_77373667del , CM000685.1:g.77373665_77373667del | GRCh37 |
| NC_000023.9:g.77260321_77260323del | NCBI36 |
| NG_008862.1:g.19000_19002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.639_641del MANE Select | ENSP00000362413.4:p.Gly214del | |
| ENST00000644362.1:c.555_557del | ENSP00000496140.1:p.Gly186del | |
| ENST00000373316.4:c.639_641del | ENSP00000362413.4:p.Gly214del | |
| ENST00000491291.1:n.631_633del | ||
| NM_000291.3:c.639_641del | NP_000282.1:p.Gly214del | |
| NM_000291.4:c.639_641del MANE Select | NP_000282.1:p.Gly214del |