Linked Data
gnomAD v4:
11-22625072-CTTCCGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625077_22625083del , CM000673.2:g.22625077_22625083del | GRCh38 |
| NC_000011.9:g.22646623_22646629del , CM000673.1:g.22646623_22646629del | GRCh37 |
| NC_000011.8:g.22603199_22603205del | NCBI36 |
| NG_007425.1:g.5763_5769del , LRG_527:g.5763_5769del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.732_738del MANE Select | ENSP00000330875.3:p.Asn244LysfsTer15 | |
| ENST00000327470.4:c.732_738del | ENSP00000330875.3:p.Asn244LysfsTer15 | |
| NM_022725.3:c.732_738del , LRG_527t1:c.732_738del | NP_073562.1:p.Asn244LysfsTer15 | |
| NM_022725.4:c.732_738del MANE Select | NP_073562.1:p.Asn244LysfsTer15 |