Linked Data
gnomAD v4:
16-56902493-GAAGAACAGAGTCAAGGTGCAGAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56902494_56902517del , CM000678.2:g.56902494_56902517del | GRCh38 |
| NC_000016.9:g.56936406_56936429del , CM000678.1:g.56936406_56936429del | GRCh37 |
| NC_000016.8:g.55493907_55493930del | NCBI36 |
| NG_009386.1:g.42288_42311del | |
| NG_009386.2:g.42288_42311del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2842_2856+9del | ||
| ENST00000262502.5:c.2839_2853+9del | ||
| ENST00000438926.6:c.2869_2883+9del | ||
| ENST00000563236.5:c.2842_2856+9del | ||
| ENST00000566786.5:c.2866_2880+9del | ||
| ENST00000569002.1:n.273_287+9del | ||
| NM_000339.2:c.2869_2883+9del | ||
| NM_001126107.1:c.2866_2880+9del | ||
| NM_001126108.1:c.2842_2856+9del | ||
| XM_005256119.1:c.2839_2853+9del | ||
| XM_005256119.2:c.2839_2853+9del | ||
| NM_000339.3:c.2869_2883+9del | ||
| NM_001126107.2:c.2866_2880+9del | ||
| NM_001126108.2:c.2842_2856+9del |