Linked Data
ClinVar Variation Id:
143250
ClinVar RCV Id:
RCV000132774
dbSNP Id:
rs267608342
ExAC:
X:153295695 GA / G
gnomAD v2:
X-153295695-GA-G
gnomAD v3:
X-154030244-GA-G
gnomAD v4:
X-154030244-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030253del , CM000685.2:g.154030253del | GRCh38 |
| NC_000023.10:g.153295704del , CM000685.1:g.153295704del | GRCh37 |
| NC_000023.9:g.152948898del | NCBI36 |
| NG_007107.2:g.111883del | |
| NG_007107.3:g.111859del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.*122del MANE Plus Clinical | ENSP00000301948.6:n.*122del | |
| ENST00000453960.7:c.*122del MANE Select | ENSP00000395535.2:n.*122del | |
| ENST00000303391.10:c.*122del | ENSP00000301948.6:n.*122del | |
| ENST00000453960.6:c.*122del | ENSP00000395535.2:n.*122del | |
| ENST00000619732.4:c.*49del | ENSP00000480973.1:n.*49del | |
| ENST00000628176.2:c.*955del | ENSP00000486978.1:n.*955del | |
| NM_001110792.1:c.*122del | NP_001104262.1:n.*122del | |
| NM_001316337.1:c.*122del | NP_001303266.1:n.*122del | |
| NM_004992.3:c.*122del | NP_004983.1:n.*122del | |
| XM_005274681.3:c.*122del | XP_005274738.1:n.*122del | |
| XM_005274682.3:c.*122del | XP_005274739.1:n.*122del | |
| XM_005274683.3:c.*122del | XP_005274740.1:n.*122del | |
| XM_006724819.2:c.*122del | XP_006724882.1:n.*122del | |
| XM_011531166.1:c.*122del | XP_011529468.1:n.*122del | |
| XM_006724819.3:c.*122del | XP_006724882.1:n.*122del | |
| XM_011531166.2:c.*122del | XP_011529468.1:n.*122del | |
| XM_024452383.1:c.*122del | XP_024308151.1:n.*122del | |
| XM_024452384.1:c.*122del | XP_024308152.1:n.*122del | |
| NM_001110792.2:c.*122del MANE Select | NP_001104262.1:n.*122del | |
| NM_001316337.2:c.*122del | NP_001303266.1:n.*122del | |
| NM_001369391.2:c.*122del | NP_001356320.1:n.*122del | |
| NM_001369392.2:c.*122del | NP_001356321.1:n.*122del | |
| NM_001369393.2:c.*122del | NP_001356322.1:n.*122del | |
| NM_001369394.1:c.*122del | NP_001356323.1:n.*122del | |
| NM_001369394.2:c.*122del | NP_001356323.1:n.*122del | |
| NM_001386137.1:c.*122del | NP_001373066.1:n.*122del | |
| NM_001386138.1:c.*122del | NP_001373067.1:n.*122del | |
| NM_001386139.1:c.*122del | NP_001373068.1:n.*122del | |
| NM_004992.4:c.*122del MANE Plus Clinical | NP_004983.1:n.*122del |