Linked Data
dbSNP Id:
rs772960012
ExAC:
21:47545462 GAGA / G
gnomAD v2:
21-47545462-GAGA-G
gnomAD v4:
21-46125548-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46125553_46125555del , CM000683.2:g.46125553_46125555del | GRCh38 |
| NC_000021.8:g.47545467_47545469del , CM000683.1:g.47545467_47545469del | GRCh37 |
| NC_000021.7:g.46369895_46369897del | NCBI36 |
| NG_008675.1:g.32435_32437del , LRG_476:g.32435_32437del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1905_1907del MANE Plus Clinical | ENSP00000380870.1:p.Lys635del | |
| ENST00000300527.9:c.1905_1907del MANE Select | ENSP00000300527.4:p.Lys635del | |
| ENST00000409416.6:c.1905_1907del | ENSP00000387115.1:p.Lys635del | |
| ENST00000300527.8:c.1905_1907del | ENSP00000300527.4:p.Lys635del | |
| ENST00000310645.9:c.1905_1907del | ENSP00000312529.5:p.Lys635del | |
| ENST00000397763.5:c.1905_1907del | ENSP00000380870.1:p.Lys635del | |
| ENST00000409416.5:c.1905_1907del | ENSP00000387115.1:p.Lys635del | |
| ENST00000413758.1:c.576_578del | ENSP00000395751.1:p.Lys192del | |
| NM_001849.3:c.1905_1907del , LRG_476t1:c.1905_1907del | NP_001840.3:p.Lys635del | |
| NM_058174.2:c.1905_1907del | NP_478054.2:p.Lys635del | |
| NM_058175.2:c.1905_1907del | NP_478055.2:p.Lys635del | |
| XM_011529451.1:c.1905_1907del | XP_011527753.1:p.Lys635del | |
| XM_011529452.1:c.1905_1907del | XP_011527754.1:p.Lys635del | |
| XR_937438.1:n.1982_1984del | ||
| XR_937439.1:n.1982_1984del | ||
| XR_937438.2:n.1989_1991del | ||
| XR_937439.2:n.1989_1991del | ||
| NM_001849.4:c.1905_1907del MANE Select | NP_001840.3:p.Lys635del | |
| NM_058174.3:c.1905_1907del MANE Plus Clinical | NP_478054.2:p.Lys635del | |
| NM_058175.3:c.1905_1907del | NP_478055.2:p.Lys635del |