Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981812_149981815del , CM000667.2:g.149981812_149981815del | GRCh38 |
| NC_000005.9:g.149361375_149361378del , CM000667.1:g.149361375_149361378del | GRCh37 |
| NC_000005.8:g.149341568_149341571del | NCBI36 |
| NG_007147.2:g.22930_22933del , LRG_684:g.22930_22933del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.2219_*2del MANE Select | ENSP00000286298.4:n.[c.2219_*2del;Ter740=] | |
| ENST00000286298.4:c.2219_*2del | ENSP00000286298.4:n.[c.2219_*2del;Ter740=] | |
| ENST00000503336.1:c.372+3461_372+3464del | ENSP00000426053.1:n.372+3461_372+3464del | |
| NM_000112.3:c.2219_*2del , LRG_684t1:c.2219_*2del | NP_000103.2:n.[c.2219_*2del;Ter740=] | |
| XM_017009191.2:c.2219_*2del | XP_016864680.1:n.[c.2219_*2del;Ter740=] | |
| NM_000112.4:c.2219_*2del MANE Select | NP_000103.2:n.[c.2219_*2del;Ter740=] |