gnomAD v4:
Joint Max Group AF
0.00000504 (NFE)
Exomes Max Group AF
0.00000535 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17844247_17844249del , CM000681.2:g.17844247_17844249del | GRCh38 |
| NC_000019.9:g.17955056_17955058del , CM000681.1:g.17955056_17955058del | GRCh37 |
| NC_000019.8:g.17816056_17816058del | NCBI36 |
| NG_007273.1:g.8745_8747del , LRG_77:g.8745_8747del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.171_173del | ENSP00000513006.1:p.Ala58del | |
| ENST00000458235.7:c.171_173del MANE Select | ENSP00000391676.1:p.Ala58del | |
| ENST00000458235.5:c.171_173del | ENSP00000391676.1:p.Ala58del | |
| ENST00000526008.5:n.271_273del | ||
| ENST00000527031.5:n.261_263del | ||
| ENST00000527670.5:c.171_173del | ENSP00000432511.1:p.Ala58del | |
| ENST00000528293.1:n.310_312del | ||
| ENST00000534444.1:c.171_173del | ENSP00000436421.1:p.Ala58del | |
| NM_000215.3:c.171_173del , LRG_77t1:c.171_173del | NP_000206.2:p.Ala58del | |
| XM_005259896.2:c.300_302del | XP_005259953.1:p.Ala101del | |
| XM_006722745.2:c.171_173del | XP_006722808.1:p.Ala58del | |
| XM_011527990.1:c.300_302del | XP_011526292.1:p.Ala101del | |
| XM_011527991.1:c.300_302del | XP_011526293.1:p.Ala101del | |
| XR_430137.2:n.310_312del | ||
| XM_005259896.3:c.300_302del | XP_005259953.1:p.Ala101del | |
| XM_011527991.2:c.300_302del | XP_011526293.1:p.Ala101del | |
| NM_000215.4:c.171_173del MANE Select | NP_000206.2:p.Ala58del |