Linked Data
gnomAD v3:
11-639974-GCCCGCCTTCCCCCACGCCACCCGCGC-G
gnomAD v4:
11-639974-GCCCGCCTTCCCCCACGCCACCCGCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.639982_640007del , CM000673.2:g.639982_640007del | GRCh38 |
| NC_000011.9:g.639982_640007del , CM000673.1:g.639982_640007del | GRCh37 |
| NC_000011.8:g.629982_630007del | NCBI36 |
| NG_021241.1:g.7678_7703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.733_758del MANE Select | ENSP00000176183.5:p.Ser245ProfsTer? | |
| ENST00000176183.5:c.733_758del | ENSP00000176183.5:p.Ser245ProfsTer? | |
| NM_000797.3:c.733_758del | NP_000788.2:p.Ser245ProfsTer? | |
| NM_000797.4:c.733_758del MANE Select | NP_000788.2:p.Ser245ProfsTer? |