Linked Data
gnomAD v4:
6-31270452-AGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270455_31270457del , CM000668.2:g.31270455_31270457del | GRCh38 |
| NC_000006.11:g.31238232_31238234del , CM000668.1:g.31238232_31238234del | GRCh37 |
| NC_000006.10:g.31346211_31346213del | NCBI36 |
| NG_029422.2:g.6677_6679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.650_652del MANE Select | ENSP00000365402.5:p.Pro217del | |
| ENST00000376228.9:c.650_652del | ENSP00000365402.5:p.Pro217del | |
| ENST00000376237.8:c.*237_*239del | ENSP00000365412.4:n.*237_*239del | |
| ENST00000383329.7:c.650_652del | ENSP00000372819.3:p.Pro217del | |
| ENST00000415537.1:c.648_650del | ||
| ENST00000487245.5:n.1009_1011del | ||
| ENST00000495835.1:n.839_841del | ||
| NM_002117.5:c.650_652del | NP_002108.4:p.Pro217del | |
| NM_002117.6:c.650_652del MANE Select | NP_002108.4:p.Pro217del |