Linked Data
dbSNP Id:
rs761075970
ExAC:
16:8941531 GC / G
gnomAD v2:
16-8941531-GC-G
gnomAD v3:
16-8847674-GC-G
gnomAD v4:
16-8847674-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847677del , CM000678.2:g.8847677del | GRCh38 |
| NC_000016.9:g.8941534del , CM000678.1:g.8941534del | GRCh37 |
| NC_000016.8:g.8849035del | NCBI36 |
| NG_009209.1:g.54865del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3808-47del | ||
| ENST00000682393.1:c.*258-1692del | ENSP00000506774.1:n.*258-1692del | |
| ENST00000683094.1:c.*262-1692del | ENSP00000508230.1:n.*262-1692del | |
| ENST00000683274.1:c.*180-1692del | ENSP00000507262.1:n.*180-1692del | |
| ENST00000683435.1:c.*536-47del | ENSP00000508092.1:n.*536-47del | |
| ENST00000268261.9:c.640-47del MANE Select | ENSP00000268261.4:n.640-47del | |
| ENST00000268261.8:c.640-47del | ENSP00000268261.4:n.640-47del | |
| ENST00000562025.1:n.174-47del | ||
| ENST00000562318.5:c.*362-47del | ENSP00000454395.1:n.*362-47del | |
| ENST00000565221.5:c.*258-47del | ENSP00000457932.1:n.*258-47del | |
| ENST00000566540.5:c.*262-47del | ENSP00000454284.1:n.*262-47del | |
| ENST00000566604.5:c.*180-47del | ENSP00000456774.1:n.*180-47del | |
| ENST00000566983.5:c.559-47del | ENSP00000457956.1:n.559-47del | |
| ENST00000567697.1:n.3808-47del | ||
| ENST00000569958.5:c.367-47del | ENSP00000456302.1:n.367-47del | |
| ENST00000570076.5:c.*98-47del | ENSP00000456961.1:n.*98-47del | |
| NM_000303.2:c.640-47del | NP_000294.1:n.640-47del | |
| XM_005255374.3:c.391-47del | XP_005255431.1:n.391-47del | |
| XM_011522538.1:c.640-7357del | XP_011520840.1:n.640-7357del | |
| XM_005255374.4:c.391-47del | XP_005255431.1:n.391-47del | |
| NM_000303.3:c.640-47del MANE Select | NP_000294.1:n.640-47del |