gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000692 (NFE)
Exomes Max Group AF
0.00000735 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160716669_160716671del , CM000668.2:g.160716669_160716671del | GRCh38 |
| NC_000006.11:g.161137701_161137703del , CM000668.1:g.161137701_161137703del | GRCh37 |
| NC_000006.10:g.161057691_161057693del | NCBI36 |
| NG_016200.1:g.19477_19479del , LRG_571:g.19477_19479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.50-5739_50-5737del | ENSP00000516619.1:n.50-5739_50-5737del | |
| ENST00000418964.2:c.744_746del | ENSP00000389424.2:p.Lys248del | |
| ENST00000706906.1:c.693_695del | ENSP00000516618.1:p.Lys231del | |
| ENST00000308192.14:c.693_695del MANE Select | ENSP00000308938.9:p.Lys231del | |
| ENST00000297289.8:n.95-5739_95-5737del | ||
| ENST00000308192.13:c.693_695del | ENSP00000308938.9:p.Lys231del | |
| NM_000301.3:c.693_695del , LRG_571t1:c.693_695del | NP_000292.1:p.Lys231del | |
| NM_000301.4:c.693_695del | NP_000292.1:p.Lys231del | |
| NM_000301.5:c.693_695del MANE Select | NP_000292.1:p.Lys231del |