MyVariant.info:
GRCh38
chrX:g.154030118del
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007935 (NFE)
Genomes Max Group AF
0.00004851 (NFE)
Exomes Max Group AF
0.00007476 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030121del , CM000685.2:g.154030121del | GRCh38 |
| NC_000023.10:g.153295572del , CM000685.1:g.153295572del | GRCh37 |
| NC_000023.9:g.152948766del | NCBI36 |
| NG_007107.2:g.112010del | |
| NG_007107.3:g.111986del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.*249del MANE Plus Clinical | ENSP00000301948.6:n.*249del | |
| ENST00000453960.7:c.*249del MANE Select | ENSP00000395535.2:n.*249del | |
| ENST00000303391.10:c.*249del | ENSP00000301948.6:n.*249del | |
| ENST00000619732.4:c.*176del | ENSP00000480973.1:n.*176del | |
| NM_004992.3:c.*249del | NP_004983.1:n.*249del | |
| XM_005274681.3:c.*249del | XP_005274738.1:n.*249del | |
| XM_005274682.3:c.*249del | XP_005274739.1:n.*249del | |
| XM_005274683.3:c.*249del | XP_005274740.1:n.*249del | |
| XM_006724819.2:c.*249del | XP_006724882.1:n.*249del | |
| XM_011531166.1:c.*249del | XP_011529468.1:n.*249del | |
| XM_006724819.3:c.*249del | XP_006724882.1:n.*249del | |
| XM_011531166.2:c.*249del | XP_011529468.1:n.*249del | |
| XM_024452383.1:c.*249del | XP_024308151.1:n.*249del | |
| XM_024452384.1:c.*249del | XP_024308152.1:n.*249del | |
| NM_001110792.2:c.*249del MANE Select | NP_001104262.1:n.*249del | |
| NM_001316337.2:c.*249del | NP_001303266.1:n.*249del | |
| NM_001369391.2:c.*249del | NP_001356320.1:n.*249del | |
| NM_001369392.2:c.*249del | NP_001356321.1:n.*249del | |
| NM_001369393.2:c.*249del | NP_001356322.1:n.*249del | |
| NM_001369394.2:c.*249del | NP_001356323.1:n.*249del | |
| NM_001386137.1:c.*249del | NP_001373066.1:n.*249del | |
| NM_001386138.1:c.*249del | NP_001373067.1:n.*249del | |
| NM_001386139.1:c.*249del | NP_001373068.1:n.*249del | |
| NM_004992.4:c.*249del MANE Plus Clinical | NP_004983.1:n.*249del |