gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004347 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.120871314del , CM000672.2:g.120871314del | GRCh38 |
| NC_000010.10:g.122630826del , CM000672.1:g.122630826del | GRCh37 |
| NC_000010.9:g.122620816del | NCBI36 |
| NG_023290.1:g.25140del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263461.11:c.1439del MANE Select | ENSP00000263461.5:p.Asn480ThrfsTer? | |
| ENST00000263461.10:c.1439del | ENSP00000263461.5:p.Asn480ThrfsTer? | |
| ENST00000497136.6:c.558del | ENSP00000474595.1:p.Lys186AsnfsTer? | |
| ENST00000604220.5:n.244del | ||
| ENST00000604585.5:c.662del | ENSP00000474880.1:p.Asn221ThrfsTer? | |
| ENST00000605543.5:c.246del | ENSP00000475076.1:p.Lys82AsnfsTer? | |
| NM_018117.11:c.1439del | NP_060587.8:p.Asn480ThrfsTer? | |
| XM_005269962.1:c.662del | XP_005270019.1:p.Asn221ThrfsTer? | |
| XM_005269963.1:c.662del | XP_005270020.1:p.Asn221ThrfsTer? | |
| XM_005269964.1:c.26del | XP_005270021.1:p.Asn9ThrfsTer? | |
| XR_428707.1:n.1576del | ||
| XR_945785.1:n.1576del | ||
| XM_005269963.2:c.662del | XP_005270020.1:p.Asn221ThrfsTer? | |
| XM_017016397.1:c.1265del | XP_016871886.1:p.Asn422ThrfsTer? | |
| XM_017016398.1:c.662del | XP_016871887.1:p.Asn221ThrfsTer? | |
| XM_017016399.1:c.152del | XP_016871888.1:p.Asn51ThrfsTer? | |
| XM_017016400.2:c.1439del | XP_016871889.1:p.Asn480ThrfsTer? | |
| XM_024448075.1:c.26del | XP_024303843.1:p.Asn9ThrfsTer? | |
| XR_001747136.2:n.1520del | ||
| XR_001747137.2:n.1520del | ||
| XR_428707.3:n.1520del | ||
| NM_018117.12:c.1439del MANE Select | NP_060587.8:p.Asn480ThrfsTer? |