Linked Data
dbSNP Id:
rs766863811
ExAC:
6:7580228 CG / C
gnomAD v2:
6-7580228-CG-C
gnomAD v4:
6-7579995-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579996del , CM000668.2:g.7579996del | GRCh38 |
| NC_000006.11:g.7580229del , CM000668.1:g.7580229del | GRCh37 |
| NC_000006.10:g.7525228del | NCBI36 |
| NG_008803.1:g.43360del , LRG_423:g.43360del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3806del | ENSP00000518230.1:p.Arg1269GlnfsTer16 | |
| ENST00000379802.8:c.3806del MANE Select | ENSP00000369129.3:p.Arg1269GlnfsTer16 | |
| ENST00000379802.7:c.3806del | ENSP00000369129.3:p.Arg1269GlnfsTer16 | |
| ENST00000418664.2:c.3582+224del | ENSP00000396591.2:n.3582+224del | |
| NM_001008844.1:c.3582+224del | NP_001008844.1:n.3582+224del | |
| NM_004415.2:c.3806del , LRG_423t1:c.3806del | NP_004406.2:p.Arg1269GlnfsTer16 | |
| XM_011514323.1:c.3806del | XP_011512625.1:p.Arg1269GlnfsTer16 | |
| NM_001008844.2:c.3582+224del | NP_001008844.1:n.3582+224del | |
| NM_001319034.1:c.3806del | NP_001305963.1:p.Arg1269GlnfsTer16 | |
| NM_004415.3:c.3806del | NP_004406.2:p.Arg1269GlnfsTer16 | |
| NM_004415.4:c.3806del MANE Select | NP_004406.2:p.Arg1269GlnfsTer16 | |
| NM_001008844.3:c.3582+224del | NP_001008844.1:n.3582+224del | |
| NM_001319034.2:c.3806del | NP_001305963.1:p.Arg1269GlnfsTer16 |