gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044875del , CM000663.2:g.17044875del | GRCh38 |
| NC_000001.10:g.17371370del , CM000663.1:g.17371370del | GRCh37 |
| NC_000001.9:g.17243957del | NCBI36 |
| NG_012340.1:g.14298del , LRG_316:g.14298del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-84del | ENSP00000481376.2:n.-84del | |
| ENST00000491274.6:c.46del | ENSP00000480482.2:p.Gln16ArgfsTer? | |
| ENST00000375499.8:c.88del MANE Select | ENSP00000364649.3:p.Gln30ArgfsTer? | |
| ENST00000375499.7:c.88del | ENSP00000364649.3:p.Gln30ArgfsTer? | |
| ENST00000463045.2:c.-84del | ENSP00000481376.1:n.-84del | |
| ENST00000466613.2:n.100del | ||
| ENST00000475506.1:n.5del | ||
| ENST00000485515.5:n.76del | ||
| ENST00000491274.5:c.46del | ENSP00000480482.1:p.Gln16ArgfsTer? | |
| NM_003000.2:c.88del , LRG_316t1:c.88del | NP_002991.2:p.Gln30ArgfsTer? | |
| NM_003000.3:c.88del MANE Select | NP_002991.2:p.Gln30ArgfsTer? |