Linked Data
dbSNP Id:
rs749370911
gnomAD v2:
16-1412901-CCCACAGGTGAGTCACCTGTGGGGAGAGGG-C
gnomAD v3:
16-1362900-CCCACAGGTGAGTCACCTGTGGGGAGAGGG-C
gnomAD v4:
16-1362900-CCCACAGGTGAGTCACCTGTGGGGAGAGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362904_1362932del , CM000678.2:g.1362904_1362932del | GRCh38 |
| NC_000016.9:g.1412905_1412933del , CM000678.1:g.1412905_1412933del | GRCh37 |
| NC_000016.8:g.1352906_1352934del | NCBI36 |
| NG_016985.1:g.16006_16034del | |
| NG_033129.1:g.56776_56804del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.920_922+26del | ||
| ENST00000529110.2:c.905_907+26del | ||
| ENST00000529957.6:n.879_881+26del | ||
| ENST00000683366.1:c.*553_*555+26del | ||
| ENST00000683887.1:c.869_871+26del | ||
| ENST00000684100.1:n.815_817+26del | ||
| ENST00000684126.1:n.955_957+26del | ||
| ENST00000684688.1:n.1446_1448+26del | ||
| ENST00000204679.9:c.821_823+26del | ||
| ENST00000204679.8:c.821_823+26del | ||
| ENST00000527076.1:n.2044_2046+26del | ||
| ENST00000527168.5:n.988_990+26del | ||
| NM_032520.4:c.821_823+26del | ||
| XM_017023782.1:c.869_871+26del | ||
| XM_017023783.1:c.461_463+26del | ||
| NM_032520.5:c.821_823+26del |