Linked Data
gnomAD v4:
6-31271091-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271093_31271095del , CM000668.2:g.31271093_31271095del | GRCh38 |
| NC_000006.11:g.31238870_31238872del , CM000668.1:g.31238870_31238872del | GRCh37 |
| NC_000006.10:g.31346849_31346851del | NCBI36 |
| NG_029422.2:g.6038_6040del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.598_600del MANE Select | ENSP00000365402.5:p.Lys200del | |
| ENST00000376228.9:c.598_600del | ENSP00000365402.5:p.Lys200del | |
| ENST00000376237.8:c.*185_*187del | ENSP00000365412.4:n.*185_*187del | |
| ENST00000383329.7:c.598_600del | ENSP00000372819.3:p.Lys200del | |
| ENST00000415537.1:c.596_598del | ||
| ENST00000487245.5:n.957_959del | ||
| ENST00000495835.1:n.787_789del | ||
| NM_002117.5:c.598_600del | NP_002108.4:p.Lys200del | |
| NM_002117.6:c.598_600del MANE Select | NP_002108.4:p.Lys200del |