ClinGen Evidence Repository:
Classification
Likely Benign
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00138361 (AFR)
Genomes Max Group AF
0.00110902 (AFR)
Exomes Max Group AF
0.0015136 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22274548_22274552del , CM000673.2:g.22274548_22274552del | GRCh38 |
| NC_000011.9:g.22296094_22296098del , CM000673.1:g.22296094_22296098del | GRCh37 |
| NC_000011.8:g.22252670_22252674del | NCBI36 |
| NG_015844.1:g.86373_86377del , LRG_868:g.86373_86377del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.253-21_253-17del | ||
| ENST00000682266.1:c.1786-21_1786-17del | ENSP00000507766.1:n.1786-21_1786-17del | |
| ENST00000682341.1:c.2194-21_2194-17del | ENSP00000508251.1:n.2194-21_2194-17del | |
| ENST00000683197.1:c.2194-21_2194-17del | ENSP00000507641.1:n.2194-21_2194-17del | |
| ENST00000683411.1:c.1786-21_1786-17del | ENSP00000508397.1:n.1786-21_1786-17del | |
| ENST00000683437.1:c.1786-21_1786-17del | ENSP00000508408.1:n.1786-21_1786-17del | |
| ENST00000683613.1:n.3230-21_3230-17del | ||
| ENST00000684663.1:c.2191-21_2191-17del | ENSP00000508009.1:n.2191-21_2191-17del | |
| ENST00000324559.9:c.2236-21_2236-17del MANE Select | ENSP00000315371.9:n.2236-21_2236-17del | |
| ENST00000648804.1:n.2571-21_2571-17del | ||
| ENST00000324559.8:c.2236-21_2236-17del | ENSP00000315371.8:n.2236-21_2236-17del | |
| ENST00000532043.1:n.253-21_253-17del | ||
| NM_001142649.1:c.2233-21_2233-17del | NP_001136121.1:n.2233-21_2233-17del | |
| NM_213599.2:c.2236-21_2236-17del , LRG_868t1:c.2236-21_2236-17del | NP_998764.1:n.2236-21_2236-17del | |
| XM_005252820.2:c.2194-21_2194-17del | XP_005252877.2:n.2194-21_2194-17del | |
| XM_005252821.2:c.2191-21_2191-17del | XP_005252878.2:n.2191-21_2191-17del | |
| XM_005252822.3:c.2158-21_2158-17del | XP_005252879.1:n.2158-21_2158-17del | |
| XM_005252823.3:c.2155-21_2155-17del | XP_005252880.1:n.2155-21_2155-17del | |
| XM_011519949.1:c.2143-21_2143-17del | XP_011518251.1:n.2143-21_2143-17del | |
| XM_005252820.3:c.2194-21_2194-17del | XP_005252877.2:n.2194-21_2194-17del | |
| XM_005252821.3:c.2191-21_2191-17del | XP_005252878.2:n.2191-21_2191-17del | |
| XM_005252822.4:c.2158-21_2158-17del | XP_005252879.1:n.2158-21_2158-17del | |
| XM_011519949.2:c.2143-21_2143-17del | XP_011518251.1:n.2143-21_2143-17del | |
| NM_001142649.2:c.2233-21_2233-17del | NP_001136121.1:n.2233-21_2233-17del | |
| NM_213599.3:c.2236-21_2236-17del MANE Select | NP_998764.1:n.2236-21_2236-17del |