gnomAD v3:
gnomAD v4:
Joint Max Group AF
7.4e-7 (NFE)
Genomes Max Group AF
0.00000926 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488566_63488582del , CM000679.2:g.63488566_63488582del | GRCh38 |
| NC_000017.10:g.61565927_61565943del , CM000679.1:g.61565927_61565943del | GRCh37 |
| NC_000017.9:g.58919659_58919675del | NCBI36 |
| NG_011648.1:g.16494_16510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2306-82_2306-66del MANE Select | ENSP00000290866.4:n.2306-82_2306-66del | |
| ENST00000290863.10:c.584-82_584-66del | ENSP00000290863.6:n.584-82_584-66del | |
| ENST00000290866.9:c.2306-82_2306-66del | ENSP00000290866.4:n.2306-82_2306-66del | |
| ENST00000413513.7:c.584-82_584-66del | ENSP00000392247.3:n.584-82_584-66del | |
| ENST00000428043.5:c.2306-82_2306-66del | ENSP00000397593.2:n.2306-82_2306-66del | |
| ENST00000577647.2:c.584-82_584-66del | ENSP00000464149.1:n.584-82_584-66del | |
| ENST00000578839.5:c.*376-82_*376-66del | ENSP00000462110.2:n.*376-82_*376-66del | |
| ENST00000579204.1:c.487-4_499del | ||
| ENST00000579314.5:c.584-4_596del | ||
| ENST00000582005.5:c.*226-82_*226-66del | ENSP00000462002.1:n.*226-82_*226-66del | |
| ENST00000582761.1:c.74-82_74-66del | ENSP00000462909.1:n.74-82_74-66del | |
| ENST00000584865.5:n.252-82_252-66del | ||
| NM_000789.3:c.2306-82_2306-66del | NP_000780.1:n.2306-82_2306-66del | |
| NM_001178057.1:c.584-82_584-66del | NP_001171528.1:n.584-82_584-66del | |
| NM_152830.2:c.584-82_584-66del | NP_690043.1:n.584-82_584-66del | |
| XM_005257110.1:c.1757-82_1757-66del | XP_005257167.1:n.1757-82_1757-66del | |
| XM_006721737.2:c.644-82_644-66del | XP_006721800.2:n.644-82_644-66del | |
| XM_006721737.3:c.644-82_644-66del | XP_006721800.2:n.644-82_644-66del | |
| NM_000789.4:c.2306-82_2306-66del MANE Select | NP_000780.1:n.2306-82_2306-66del | |
| NM_001178057.2:c.584-82_584-66del | NP_001171528.1:n.584-82_584-66del | |
| NM_152830.3:c.584-82_584-66del | NP_690043.1:n.584-82_584-66del | |
| NM_001382700.1:c.1739-82_1739-66del | NP_001369629.1:n.1739-82_1739-66del | |
| NM_001382701.1:c.1454-82_1454-66del | NP_001369630.1:n.1454-82_1454-66del | |
| NM_001382702.1:c.236-82_236-66del | NP_001369631.1:n.236-82_236-66del | |
| NR_168483.1:n.606-4_618del |