gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010804 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00011339 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73635386_73635400del , CM000668.2:g.73635386_73635400del | GRCh38 |
| NC_000006.11:g.74345109_74345123del , CM000668.1:g.74345109_74345123del | GRCh37 |
| NC_000006.10:g.74401830_74401844del | NCBI36 |
| NG_008272.1:g.23616_23630del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.802_816del MANE Select | ENSP00000348019.5:p.Ser268_Asn272del | |
| ENST00000355773.5:c.802_816del | ENSP00000348019.5:p.Ser268_Asn272del | |
| ENST00000481996.1:n.568_582del | ||
| NM_012434.4:c.802_816del | NP_036566.1:p.Ser268_Asn272del | |
| XM_005248710.2:c.751_765del | XP_005248767.1:p.Ser251_Asn255del | |
| XM_005248711.1:c.604_618del | XP_005248768.1:p.Ser202_Asn206del | |
| XM_011535750.1:c.802_816del | XP_011534052.1:p.Ser268_Asn272del | |
| XM_011535751.1:c.802_816del | XP_011534053.1:p.Ser268_Asn272del | |
| NM_012434.5:c.802_816del MANE Select | NP_036566.1:p.Ser268_Asn272del | |
| NM_001382629.1:c.571_585del | NP_001369558.1:p.Ser191_Asn195del | |
| NM_001382630.1:c.802_816del | NP_001369559.1:p.Ser268_Asn272del | |
| NM_001382631.1:c.823_837del | NP_001369560.1:p.Ser275_Asn279del | |
| NM_001382632.1:c.715_729del | NP_001369561.1:p.Ser239_Asn243del | |
| NM_001382633.1:c.802_816del | NP_001369562.1:p.Ser268_Asn272del | |
| NM_001382634.1:c.802_816del | NP_001369563.1:p.Ser268_Asn272del | |
| NM_001382635.1:c.799_813del | NP_001369564.1:p.Ser267_Asn271del | |
| NM_001382636.1:c.484_498del | NP_001369565.1:p.Ser162_Asn166del |