MyVariant.info:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0001362 (SAS)
Exomes Max Group AF
0.00014364 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837204_102837206del , CM000672.2:g.102837204_102837206del | GRCh38 |
| NC_000010.10:g.104596961_104596963del , CM000672.1:g.104596961_104596963del | GRCh37 |
| NC_000010.9:g.104586951_104586953del | NCBI36 |
| NG_007955.1:g.5332_5334del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.160_162del MANE Select | ENSP00000358903.3:p.Phe54del | |
| ENST00000638190.1:c.160_162del | ENSP00000492539.1:p.Phe54del | |
| ENST00000638272.1:c.160_162del | ENSP00000491508.1:p.Phe54del | |
| ENST00000638971.1:c.160_162del | ENSP00000492313.1:p.Phe54del | |
| ENST00000639393.1:c.160_162del | ENSP00000492651.1:p.Phe54del | |
| ENST00000369887.3:c.160_162del | ENSP00000358903.3:p.Phe54del | |
| ENST00000489268.1:n.213_215del | ||
| NM_000102.3:c.160_162del | NP_000093.1:p.Phe54del | |
| NM_000102.4:c.160_162del MANE Select | NP_000093.1:p.Phe54del |