MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001789 (EAS)
Exomes Max Group AF
0.00000844 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352141_133352144del , CM000671.2:g.133352141_133352144del | GRCh38 |
| NC_000009.10:g.135208817_135208820del | NCBI36 |
| NG_008477.1:g.9365_9368del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.752_755del | ||
| ENST00000371974.7:c.752_755del | ||
| ENST00000437995.1:n.662_665del | ||
| ENST00000495952.5:n.742_745del | ||
| ENST00000615505.4:c.425_428del | ||
| NM_001280787.1:c.425_428del | ||
| NM_003172.3:c.752_755del | ||
| XM_011518942.1:c.425_428del | ||
| NM_003172.4:c.752_755del |