gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99758188del , CM000669.2:g.99758188del | GRCh38 |
| NC_000007.13:g.99355811del , CM000669.1:g.99355811del | GRCh37 |
| NC_000007.12:g.99193747del | NCBI36 |
| NG_008421.1:g.31002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1554del | ENSP00000337915.3:p.Lys518AsnfsTer5 | |
| ENST00000651162.1:n.896del | ||
| ENST00000651514.1:c.1461del MANE Select | ENSP00000498939.1:p.Lys487AsnfsTer5 | |
| ENST00000651783.1:c.1002del | ENSP00000498924.1:p.Lys334AsnfsTer5 | |
| ENST00000652018.1:c.1314del | ENSP00000498733.1:p.Lys438AsnfsTer5 | |
| ENST00000336411.6:c.1461del | ENSP00000337915.2:p.Lys487AsnfsTer5 | |
| ENST00000354593.6:c.1011del | ENSP00000346607.2:p.Lys337AsnfsTer5 | |
| NM_001202855.2:c.1458del | NP_001189784.1:p.Lys486AsnfsTer5 | |
| NM_017460.5:c.1461del | NP_059488.2:p.Lys487AsnfsTer5 | |
| XM_011515841.1:c.1554del | XP_011514143.1:p.Lys518AsnfsTer5 | |
| XM_011515842.1:c.1551del | XP_011514144.1:p.Lys517AsnfsTer5 | |
| NM_017460.6:c.1461del MANE Select | NP_059488.2:p.Lys487AsnfsTer5 | |
| NM_001202855.3:c.1458del | NP_001189784.1:p.Lys486AsnfsTer5 |