Linked Data
dbSNP Id:
rs761642362
ExAC:
21:47545380 CTG / C
gnomAD v2:
21-47545380-CTG-C
gnomAD v4:
21-46125466-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46125469_46125470del , CM000683.2:g.46125469_46125470del | GRCh38 |
| NC_000021.8:g.47545383_47545384del , CM000683.1:g.47545383_47545384del | GRCh37 |
| NC_000021.7:g.46369811_46369812del | NCBI36 |
| NG_008675.1:g.32351_32352del , LRG_476:g.32351_32352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1821_1822del MANE Plus Clinical | ENSP00000380870.1:p.Cys607Ter | |
| ENST00000300527.9:c.1821_1822del MANE Select | ENSP00000300527.4:p.Cys607Ter | |
| ENST00000409416.6:c.1821_1822del | ENSP00000387115.1:p.Cys607Ter | |
| ENST00000300527.8:c.1821_1822del | ENSP00000300527.4:p.Cys607Ter | |
| ENST00000310645.9:c.1821_1822del | ENSP00000312529.5:p.Cys607Ter | |
| ENST00000397763.5:c.1821_1822del | ENSP00000380870.1:p.Cys607Ter | |
| ENST00000409416.5:c.1821_1822del | ENSP00000387115.1:p.Cys607Ter | |
| ENST00000413758.1:c.492_493del | ENSP00000395751.1:p.Cys164Ter | |
| NM_001849.3:c.1821_1822del , LRG_476t1:c.1821_1822del | NP_001840.3:p.Cys607Ter | |
| NM_058174.2:c.1821_1822del | NP_478054.2:p.Cys607Ter | |
| NM_058175.2:c.1821_1822del | NP_478055.2:p.Cys607Ter | |
| XM_011529451.1:c.1821_1822del | XP_011527753.1:p.Cys607Ter | |
| XM_011529452.1:c.1821_1822del | XP_011527754.1:p.Cys607Ter | |
| XR_937438.1:n.1898_1899del | ||
| XR_937439.1:n.1898_1899del | ||
| XR_937438.2:n.1905_1906del | ||
| XR_937439.2:n.1905_1906del | ||
| NM_001849.4:c.1821_1822del MANE Select | NP_001840.3:p.Cys607Ter | |
| NM_058174.3:c.1821_1822del MANE Plus Clinical | NP_478054.2:p.Cys607Ter | |
| NM_058175.3:c.1821_1822del | NP_478055.2:p.Cys607Ter |