gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70490884_70490887del , CM000668.2:g.70490884_70490887del | GRCh38 |
| NC_000006.11:g.71200587_71200590del , CM000668.1:g.71200587_71200590del | GRCh37 |
| NC_000006.10:g.71257308_71257311del | NCBI36 |
| NG_054903.1:g.82481_82484del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418814.7:c.824-150_824-147del MANE Select | ENSP00000410768.2:n.824-150_824-147del | |
| ENST00000194672.11:c.*324-150_*324-147del | ENSP00000194672.7:n.*324-150_*324-147del | |
| ENST00000361499.7:c.824-150_824-147del | ENSP00000354913.3:n.824-150_824-147del | |
| ENST00000370479.7:c.824-150_824-147del | ENSP00000359510.4:n.824-150_824-147del | |
| ENST00000393299.6:n.859-150_859-147del | ||
| ENST00000418814.6:c.824-150_824-147del | ENSP00000410768.2:n.824-150_824-147del | |
| ENST00000425415.2:n.101-150_101-147del | ||
| ENST00000457062.6:c.773-150_773-147del | ENSP00000409201.2:n.773-150_773-147del | |
| ENST00000505769.5:c.824-150_824-147del | ENSP00000423785.1:n.824-150_824-147del | |
| ENST00000505868.1:c.824-150_824-147del | ENSP00000423307.1:n.824-150_824-147del | |
| ENST00000515323.5:c.824-150_824-147del | ENSP00000422406.1:n.824-150_824-147del | |
| NM_001105531.2:c.824-150_824-147del | NP_001099001.1:n.824-150_824-147del | |
| NM_001162529.1:c.824-150_824-147del | NP_001156001.1:n.824-150_824-147del | |
| NM_020819.4:c.773-150_773-147del | NP_065870.3:n.773-150_773-147del | |
| XM_005248743.1:c.902-150_902-147del | XP_005248800.1:n.902-150_902-147del | |
| XM_005248744.3:c.902-150_902-147del | XP_005248801.1:n.902-150_902-147del | |
| XM_005248745.1:c.824-150_824-147del | XP_005248802.1:n.824-150_824-147del | |
| XM_005248748.1:c.902-150_902-147del | XP_005248805.1:n.902-150_902-147del | |
| XM_005248749.1:c.902-150_902-147del | XP_005248806.1:n.902-150_902-147del | |
| XM_005248751.1:c.902-150_902-147del | XP_005248808.1:n.902-150_902-147del | |
| XM_011535993.1:c.902-150_902-147del | XP_011534295.1:n.902-150_902-147del | |
| XM_011535994.1:c.902-150_902-147del | XP_011534296.1:n.902-150_902-147del | |
| XM_011535995.1:c.902-150_902-147del | XP_011534297.1:n.902-150_902-147del | |
| XM_011535996.1:c.902-150_902-147del | XP_011534298.1:n.902-150_902-147del | |
| XM_011535997.1:c.803-150_803-147del | XP_011534299.1:n.803-150_803-147del | |
| NM_001162529.2:c.824-150_824-147del | NP_001156001.1:n.824-150_824-147del | |
| NM_001330995.2:c.824-150_824-147del | NP_001317924.1:n.824-150_824-147del | |
| NM_001330996.2:c.902-150_902-147del | NP_001317925.1:n.902-150_902-147del | |
| NM_001330997.2:c.824-150_824-147del | NP_001317926.1:n.824-150_824-147del | |
| NM_001330998.2:c.902-150_902-147del | NP_001317927.1:n.902-150_902-147del | |
| NM_001330999.2:c.902-150_902-147del | NP_001317928.1:n.902-150_902-147del | |
| NM_001331000.2:c.725-150_725-147del | NP_001317929.1:n.725-150_725-147del | |
| NM_001331001.2:c.824-150_824-147del | NP_001317930.1:n.824-150_824-147del | |
| NM_001331002.2:c.824-150_824-147del | NP_001317931.1:n.824-150_824-147del | |
| NM_001331003.2:c.902-150_902-147del | NP_001317932.1:n.902-150_902-147del | |
| NM_001331004.2:c.-297-150_-297-147del | NP_001317933.1:n.-297-150_-297-147del | |
| NM_001331005.2:c.725-150_725-147del | NP_001317934.1:n.725-150_725-147del | |
| NM_001331006.2:c.902-150_902-147del | NP_001317935.1:n.902-150_902-147del | |
| NM_001351599.1:c.902-150_902-147del | NP_001338528.1:n.902-150_902-147del | |
| NM_001351600.1:c.824-150_824-147del | NP_001338529.1:n.824-150_824-147del | |
| NM_001351602.1:c.824-150_824-147del | NP_001338531.1:n.824-150_824-147del | |
| NM_001351607.1:c.824-150_824-147del | NP_001338536.1:n.824-150_824-147del | |
| NM_001351608.1:c.566-150_566-147del | NP_001338537.1:n.566-150_566-147del | |
| NM_001351609.1:c.644-150_644-147del | NP_001338538.1:n.644-150_644-147del | |
| XM_011535993.3:c.902-150_902-147del | XP_011534295.1:n.902-150_902-147del | |
| XM_011535994.2:c.902-150_902-147del | XP_011534296.1:n.902-150_902-147del | |
| XM_011535995.3:c.902-150_902-147del | XP_011534297.1:n.902-150_902-147del | |
| XM_011535996.2:c.902-150_902-147del | XP_011534298.1:n.902-150_902-147del | |
| XM_011535997.2:c.803-150_803-147del | XP_011534299.1:n.803-150_803-147del | |
| XM_017011127.1:c.824-150_824-147del | XP_016866616.1:n.824-150_824-147del | |
| XM_017011136.1:c.-297-150_-297-147del | XP_016866625.1:n.-297-150_-297-147del | |
| NM_001105531.3:c.824-150_824-147del | NP_001099001.1:n.824-150_824-147del | |
| NM_001162529.3:c.824-150_824-147del MANE Select | NP_001156001.1:n.824-150_824-147del | |
| NM_001330995.3:c.824-150_824-147del | NP_001317924.1:n.824-150_824-147del | |
| NM_001330996.3:c.902-150_902-147del | NP_001317925.1:n.902-150_902-147del | |
| NM_001330997.3:c.824-150_824-147del | NP_001317926.1:n.824-150_824-147del | |
| NM_001330998.3:c.902-150_902-147del | NP_001317927.1:n.902-150_902-147del | |
| NM_001330999.3:c.902-150_902-147del | NP_001317928.1:n.902-150_902-147del | |
| NM_001331000.3:c.725-150_725-147del | NP_001317929.1:n.725-150_725-147del | |
| NM_001331001.3:c.824-150_824-147del | NP_001317930.1:n.824-150_824-147del | |
| NM_001331002.3:c.824-150_824-147del | NP_001317931.1:n.824-150_824-147del | |
| NM_001331003.3:c.902-150_902-147del | NP_001317932.1:n.902-150_902-147del | |
| NM_001331004.3:c.-297-150_-297-147del | NP_001317933.1:n.-297-150_-297-147del | |
| NM_001331005.3:c.725-150_725-147del | NP_001317934.1:n.725-150_725-147del | |
| NM_001331006.3:c.902-150_902-147del | NP_001317935.1:n.902-150_902-147del | |
| NM_001351599.2:c.902-150_902-147del | NP_001338528.1:n.902-150_902-147del | |
| NM_001351600.2:c.824-150_824-147del | NP_001338529.1:n.824-150_824-147del | |
| NM_001351602.2:c.824-150_824-147del | NP_001338531.1:n.824-150_824-147del | |
| NM_001351607.2:c.824-150_824-147del | NP_001338536.1:n.824-150_824-147del | |
| NM_001351608.2:c.566-150_566-147del | NP_001338537.1:n.566-150_566-147del | |
| NM_001351609.2:c.644-150_644-147del | NP_001338538.1:n.644-150_644-147del | |
| NM_020819.5:c.773-150_773-147del | NP_065870.3:n.773-150_773-147del |