gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583521del , CM000673.2:g.2583521del | GRCh38 |
| NC_000011.9:g.2604751del , CM000673.1:g.2604751del | GRCh37 |
| NC_000011.8:g.2561327del | NCBI36 |
| NG_008935.1:g.143531del , LRG_287:g.143531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.747del | ENSP00000434560.2:p.Ile250SerfsTer? | |
| ENST00000646564.2:c.564del | ENSP00000495806.2:p.Ile189SerfsTer? | |
| ENST00000155840.12:c.1008del MANE Select | ENSP00000155840.2:p.Ile337SerfsTer17 | |
| ENST00000335475.6:c.627del | ENSP00000334497.5:p.Ile210SerfsTer17 | |
| ENST00000646564.1:c.210del | ENSP00000495806.1:p.Ile71SerfsTer? | |
| ENST00000155840.9:c.1008del | ENSP00000155840.2:p.Ile337SerfsTer17 | |
| ENST00000335475.5:c.627del | ENSP00000334497.5:p.Ile210SerfsTer17 | |
| NM_000218.2:c.1008del , LRG_287t1:c.1008del | NP_000209.2:p.Ile337SerfsTer17 | |
| NM_181798.1:c.627del , LRG_287t2:c.627del | NP_861463.1:p.Ile210SerfsTer17 | |
| NM_000218.3:c.1008del MANE Select | NP_000209.2:p.Ile337SerfsTer17 |