Linked Data
dbSNP Id:
rs751727155
ExAC:
1:8419885 TTCTCCC / T
gnomAD v2:
1-8419885-TTCTCCC-T
gnomAD v4:
1-8359825-TTCTCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8359826_8359831del , CM000663.2:g.8359826_8359831del | GRCh38 |
| NC_000001.10:g.8419886_8419891del , CM000663.1:g.8419886_8419891del | GRCh37 |
| NC_000001.9:g.8342473_8342478del | NCBI36 |
| NG_047035.1:g.462861_462866del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1889_1894del | ENSP00000515651.1:p.Arg630_Lys632delinsGln | |
| ENST00000400908.7:c.3551_3556del MANE Select | ENSP00000383700.2:p.Arg1184_Lys1186delinsGln | |
| ENST00000337907.7:c.3551_3556del | ENSP00000338629.3:p.Arg1184_Lys1186delinsGln | |
| ENST00000377464.5:c.2747_2752del | ENSP00000366684.1:p.Arg916_Lys918delinsGln | |
| ENST00000400907.6:c.1541-4232_1541-4227del | ENSP00000383699.2:n.1541-4232_1541-4227del | |
| ENST00000400908.6:c.3551_3556del | ENSP00000383700.2:p.Arg1184_Lys1186delinsGln | |
| ENST00000476556.5:c.1889_1894del | ENSP00000422246.1:p.Arg630_Lys632delinsGln | |
| ENST00000505225.1:c.307+1629_307+1634del | ENSP00000423451.1:n.307+1629_307+1634del | |
| NM_001042681.1:c.3551_3556del | NP_001036146.1:p.Arg1184_Lys1186delinsGln | |
| NM_001042682.1:c.1889_1894del | NP_001036147.1:p.Arg630_Lys632delinsGln | |
| NM_012102.3:c.3551_3556del | NP_036234.3:p.Arg1184_Lys1186delinsGln | |
| XM_005263464.1:c.3551_3556del | XP_005263521.1:p.Arg1184_Lys1186delinsGln | |
| XM_005263466.1:c.2747_2752del | XP_005263523.1:p.Arg916_Lys918delinsGln | |
| XM_006710653.1:c.3551_3556del | XP_006710716.1:p.Arg1184_Lys1186delinsGln | |
| XM_011541510.1:c.3425_3430del | XP_011539812.1:p.Arg1142_Lys1144delinsGln | |
| XM_011541511.1:c.3395+281_3395+286del | XP_011539813.1:n.3395+281_3395+286del | |
| XM_005263464.2:c.3551_3556del | XP_005263521.1:p.Arg1184_Lys1186delinsGln | |
| XM_011541510.2:c.3425_3430del | XP_011539812.1:p.Arg1142_Lys1144delinsGln | |
| XM_011541511.2:c.3395+281_3395+286del | XP_011539813.1:n.3395+281_3395+286del | |
| XM_017001358.1:c.3551_3556del | XP_016856847.1:p.Arg1184_Lys1186delinsGln | |
| XM_017001359.1:c.3551_3556del | XP_016856848.1:p.Arg1184_Lys1186delinsGln | |
| NM_001042681.2:c.3551_3556del MANE Select | NP_001036146.1:p.Arg1184_Lys1186delinsGln | |
| NM_001042682.2:c.1889_1894del | NP_001036147.1:p.Arg630_Lys632delinsGln | |
| NM_012102.4:c.3551_3556del | NP_036234.3:p.Arg1184_Lys1186delinsGln |