Linked Data
ClinVar Variation Id:
2847232
ClinVar RCV Id:
RCV003640191
dbSNP Id:
rs2065904794
gnomAD v4:
X-154030495-TGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030501_154030503del , CM000685.2:g.154030501_154030503del | GRCh38 |
| NC_000023.10:g.153295952_153295954del , CM000685.1:g.153295952_153295954del | GRCh37 |
| NC_000023.9:g.152949146_152949148del | NCBI36 |
| NG_007107.2:g.111630_111632del | |
| NG_007107.3:g.111606_111608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1330_1332del MANE Plus Clinical | ENSP00000301948.6:p.Ala444del | |
| ENST00000453960.7:c.1366_1368del MANE Select | ENSP00000395535.2:p.Ala456del | |
| ENST00000303391.10:c.1330_1332del | ENSP00000301948.6:p.Ala444del | |
| ENST00000453960.6:c.1366_1368del | ENSP00000395535.2:p.Ala456del | |
| ENST00000619732.4:c.1330_1332del | ENSP00000480973.1:p.Ala444del | |
| ENST00000628176.2:c.*702_*704del | ENSP00000486978.1:n.*702_*704del | |
| NM_001110792.1:c.1366_1368del | NP_001104262.1:p.Ala456del | |
| NM_001316337.1:c.1051_1053del | NP_001303266.1:p.Ala351del | |
| NM_004992.3:c.1330_1332del | NP_004983.1:p.Ala444del | |
| XM_005274681.3:c.1330_1332del | XP_005274738.1:p.Ala444del | |
| XM_005274682.3:c.1051_1053del | XP_005274739.1:p.Ala351del | |
| XM_005274683.3:c.1051_1053del | XP_005274740.1:p.Ala351del | |
| XM_006724819.2:c.661_663del | XP_006724882.1:p.Ala221del | |
| XM_011531166.1:c.1051_1053del | XP_011529468.1:p.Ala351del | |
| XM_006724819.3:c.661_663del | XP_006724882.1:p.Ala221del | |
| XM_011531166.2:c.1051_1053del | XP_011529468.1:p.Ala351del | |
| XM_024452383.1:c.1051_1053del | XP_024308151.1:p.Ala351del | |
| XM_024452384.1:c.1051_1053del | XP_024308152.1:p.Ala351del | |
| NM_001110792.2:c.1366_1368del MANE Select | NP_001104262.1:p.Ala456del | |
| NM_001316337.2:c.1051_1053del | NP_001303266.1:p.Ala351del | |
| NM_001369391.2:c.1051_1053del | NP_001356320.1:p.Ala351del | |
| NM_001369392.2:c.1051_1053del | NP_001356321.1:p.Ala351del | |
| NM_001369393.2:c.1051_1053del | NP_001356322.1:p.Ala351del | |
| NM_001369394.1:c.1051_1053del | NP_001356323.1:p.Ala351del | |
| NM_001369394.2:c.1051_1053del | NP_001356323.1:p.Ala351del | |
| NM_001386137.1:c.661_663del | NP_001373066.1:p.Ala221del | |
| NM_001386138.1:c.661_663del | NP_001373067.1:p.Ala221del | |
| NM_001386139.1:c.661_663del | NP_001373068.1:p.Ala221del | |
| NM_004992.4:c.1330_1332del MANE Plus Clinical | NP_004983.1:p.Ala444del |