Linked Data
dbSNP Id:
rs748509929
ExAC:
21:47545350 A / AC
gnomAD v2:
21-47545350-A-AC
gnomAD v3:
21-46125436-A-AC
gnomAD v4:
21-46125436-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46125442dup , CM000683.2:g.46125442dup | GRCh38 |
| NC_000021.8:g.47545356dup , CM000683.1:g.47545356dup | GRCh37 |
| NC_000021.7:g.46369784dup | NCBI36 |
| NG_008675.1:g.32324dup , LRG_476:g.32324dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1817-23dup MANE Plus Clinical | ENSP00000380870.1:n.1817-23dup | |
| ENST00000300527.9:c.1817-23dup MANE Select | ENSP00000300527.4:n.1817-23dup | |
| ENST00000409416.6:c.1817-23dup | ENSP00000387115.1:n.1817-23dup | |
| ENST00000300527.8:c.1817-23dup | ENSP00000300527.4:n.1817-23dup | |
| ENST00000310645.9:c.1817-23dup | ENSP00000312529.5:n.1817-23dup | |
| ENST00000397763.5:c.1817-23dup | ENSP00000380870.1:n.1817-23dup | |
| ENST00000409416.5:c.1817-23dup | ENSP00000387115.1:n.1817-23dup | |
| ENST00000413758.1:c.465dup | ENSP00000395751.1:p.Asp156ArgfsTer2 | |
| NM_001849.3:c.1817-23dup , LRG_476t1:c.1817-23dup | NP_001840.3:n.1817-23dup | |
| NM_058174.2:c.1817-23dup | NP_478054.2:n.1817-23dup | |
| NM_058175.2:c.1817-23dup | NP_478055.2:n.1817-23dup | |
| XM_011529451.1:c.1817-23dup | XP_011527753.1:n.1817-23dup | |
| XM_011529452.1:c.1817-23dup | XP_011527754.1:n.1817-23dup | |
| XR_937438.1:n.1894-23dup | ||
| XR_937439.1:n.1894-23dup | ||
| XR_937438.2:n.1901-23dup | ||
| XR_937439.2:n.1901-23dup | ||
| NM_001849.4:c.1817-23dup MANE Select | NP_001840.3:n.1817-23dup | |
| NM_058174.3:c.1817-23dup MANE Plus Clinical | NP_478054.2:n.1817-23dup | |
| NM_058175.3:c.1817-23dup | NP_478055.2:n.1817-23dup |