Linked Data
dbSNP Id:
rs750079784
ExAC:
16:227431 GCTT / G
gnomAD v2:
16-227431-GCTT-G
gnomAD v4:
16-177432-GCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177436_177438del , CM000678.2:g.177436_177438del | GRCh38 |
| NC_000016.9:g.227435_227437del , CM000678.1:g.227435_227437del | GRCh37 |
| NC_000016.8:g.167435_167437del | NCBI36 |
| NG_000006.1:g.38299_38301del | |
| NG_059186.1:g.5786_5788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.*25_*27del MANE Select | ENSP00000322421.5:n.*25_*27del | |
| ENST00000397797.1:c.*25_*27del | ENSP00000380899.1:n.*25_*27del | |
| ENST00000472694.1:n.590_592del | ||
| NM_000558.4:c.*25_*27del | NP_000549.1:n.*25_*27del | |
| NM_000558.5:c.*25_*27del MANE Select | NP_000549.1:n.*25_*27del |