gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001467 (SAS)
Exomes Max Group AF
0.00000963 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63437502_63437503del , CM000664.2:g.63437502_63437503del | GRCh38 |
| NC_000002.11:g.63664636_63664637del , CM000664.1:g.63664636_63664637del | GRCh37 |
| NC_000002.10:g.63518140_63518141del | NCBI36 |
| NG_028144.1:g.156232_156233del | |
| NG_028144.2:g.408324_408325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.552_553del MANE Select | ENSP00000272321.7:p.Cys185PhefsTer12 | |
| ENST00000272321.11:c.552_553del | ENSP00000272321.7:p.Cys185PhefsTer12 | |
| ENST00000398544.7:c.75_76del | ENSP00000381552.3:p.Cys26PhefsTer12 | |
| ENST00000409120.5:c.-25_-24del | ENSP00000386769.1:n.-25_-24del | |
| ENST00000409199.5:c.-25_-24del | ENSP00000386592.1:n.-25_-24del | |
| ENST00000409562.7:c.552_553del | ENSP00000387222.3:p.Cys185PhefsTer12 | |
| ENST00000409835.5:n.799_800del | ||
| ENST00000417238.5:c.*663_*664del | ENSP00000411429.1:n.*663_*664del | |
| ENST00000418148.5:c.531_532del | ||
| ENST00000473678.1:c.-25_-24del | ENSP00000430288.1:n.-25_-24del | |
| ENST00000493315.1:n.254_255del | ||
| NM_001042692.2:c.75_76del | NP_001036157.1:p.Cys26PhefsTer12 | |
| NM_015910.5:c.552_553del | NP_056994.3:p.Cys185PhefsTer12 | |
| NR_122106.1:n.199_200del | ||
| XM_005264348.2:c.552_553del | XP_005264405.1:p.Cys185PhefsTer12 | |
| XM_011532881.1:c.480_481del | XP_011531183.1:p.Cys161PhefsTer12 | |
| XM_011532882.1:c.453_454del | XP_011531184.1:p.Cys152PhefsTer12 | |
| XM_011532883.1:c.552_553del | XP_011531185.1:p.Cys185PhefsTer12 | |
| XM_011532884.1:c.552_553del | XP_011531186.1:p.Cys185PhefsTer12 | |
| XM_011532885.1:c.552_553del | XP_011531187.1:p.Cys185PhefsTer12 | |
| XM_011532886.1:c.552_553del | XP_011531188.1:p.Cys185PhefsTer12 | |
| XM_011532887.1:c.552_553del | XP_011531189.1:p.Cys185PhefsTer12 | |
| XM_011532888.1:c.552_553del | XP_011531190.1:p.Cys185PhefsTer12 | |
| XM_011532889.1:c.552_553del | XP_011531191.1:p.Cys185PhefsTer12 | |
| XM_011532890.1:c.552_553del | XP_011531192.1:p.Cys185PhefsTer12 | |
| XM_011532891.1:c.480_481del | XP_011531193.1:p.Cys161PhefsTer12 | |
| XR_244934.1:n.799_800del | ||
| XR_244935.1:n.799_800del | ||
| XR_939686.1:n.799_800del | ||
| NM_001042692.3:c.75_76del | NP_001036157.1:p.Cys26PhefsTer12 | |
| NM_001354044.1:c.480_481del | NP_001340973.1:p.Cys161PhefsTer12 | |
| NM_001354045.1:c.552_553del | NP_001340974.1:p.Cys185PhefsTer12 | |
| NM_015910.6:c.552_553del | NP_056994.3:p.Cys185PhefsTer12 | |
| NR_122106.2:n.199_200del | ||
| NR_148704.1:n.1332_1333del | ||
| NR_148705.1:n.1080_1081del | ||
| XM_005264348.4:c.552_553del | XP_005264405.1:p.Cys185PhefsTer12 | |
| XM_011532881.3:c.480_481del | XP_011531183.1:p.Cys161PhefsTer12 | |
| XM_011532884.3:c.552_553del | XP_011531186.1:p.Cys185PhefsTer12 | |
| XM_011532887.3:c.552_553del | XP_011531189.1:p.Cys185PhefsTer12 | |
| XM_011532890.3:c.552_553del | XP_011531192.1:p.Cys185PhefsTer12 | |
| XM_011532891.2:c.480_481del | XP_011531193.1:p.Cys161PhefsTer12 | |
| XM_017004253.2:c.552_553del | XP_016859742.1:p.Cys185PhefsTer12 | |
| XM_017004254.2:c.552_553del | XP_016859743.1:p.Cys185PhefsTer12 | |
| XR_001738759.2:n.1014_1015del | ||
| XR_001738760.2:n.1014_1015del | ||
| XR_002959303.1:n.1014_1015del | ||
| XR_244934.3:n.1014_1015del | ||
| NM_015910.7:c.552_553del MANE Select | NP_056994.3:p.Cys185PhefsTer12 | |
| NM_001354044.2:c.480_481del | NP_001340973.1:p.Cys161PhefsTer12 | |
| NM_001354045.2:c.552_553del | NP_001340974.1:p.Cys185PhefsTer12 | |
| NR_148704.2:n.1010_1011del | ||
| NR_148705.2:n.758_759del |