gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13919319del , CM000667.2:g.13919319del | GRCh38 |
| NC_000005.9:g.13919428del , CM000667.1:g.13919428del | GRCh37 |
| NC_000005.8:g.13972428del | NCBI36 |
| NG_013081.1:g.30162del | |
| NG_013081.2:g.30162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.888del | ||
| ENST00000682376.1:n.876del | ||
| ENST00000682586.1:n.925del | ||
| ENST00000683011.1:n.771del | ||
| ENST00000683967.1:n.931del | ||
| ENST00000684013.1:n.931del | ||
| ENST00000684099.1:n.927del | ||
| ENST00000265104.5:c.832del MANE Select | ENSP00000265104.4:p.Ala278ArgfsTer27 | |
| ENST00000680213.1:c.592del | ENSP00000506622.1:p.Ala198ArgfsTer27 | |
| ENST00000681290.1:c.787del | ENSP00000505288.1:p.Ala263ArgfsTer27 | |
| ENST00000265104.4:c.832del | ENSP00000265104.4:p.Ala278ArgfsTer27 | |
| ENST00000508040.1:n.1240del | ||
| NM_001369.2:c.832del | NP_001360.1:p.Ala278ArgfsTer27 | |
| XM_005248262.2:c.787del | XP_005248319.1:p.Ala263ArgfsTer27 | |
| XM_011513990.1:c.832del | XP_011512292.1:p.Ala278ArgfsTer27 | |
| XR_925598.1:n.1039del | ||
| XM_005248262.3:c.940del | XP_005248319.2:p.Ala314ArgfsTer27 | |
| XM_017009177.1:c.940del | XP_016864666.1:p.Ala314ArgfsTer27 | |
| XM_017009178.1:c.-156del | XP_016864667.1:n.-156del | |
| XM_017009180.1:c.940del | XP_016864669.1:p.Ala314ArgfsTer27 | |
| XM_017009181.1:c.940del | XP_016864670.1:p.Ala314ArgfsTer27 | |
| XM_017009182.1:c.940del | XP_016864671.1:p.Ala314ArgfsTer27 | |
| XM_017009183.1:c.940del | XP_016864672.1:p.Ala314ArgfsTer27 | |
| XM_017009184.1:c.940del | XP_016864673.1:p.Ala314ArgfsTer27 | |
| XM_017009187.1:c.940del | XP_016864676.1:p.Ala314ArgfsTer27 | |
| XM_024454388.1:c.-2075del | XP_024310156.1:n.-2075del | |
| XM_024454389.1:c.-1128del | XP_024310157.1:n.-1128del | |
| XR_001742034.1:n.957del | ||
| XR_001742035.1:n.957del | ||
| NM_001369.3:c.832del MANE Select | NP_001360.1:p.Ala278ArgfsTer27 |