Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154965993del , CM000685.2:g.154965993del | GRCh38 |
| NC_000023.10:g.154194268del , CM000685.1:g.154194268del | GRCh37 |
| NC_000023.9:g.153847462del | NCBI36 |
| NG_011403.1:g.61734del | |
| NG_011403.2:g.61734del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1423del MANE Select | ENSP00000353393.4:p.Glu475LysfsTer7 | |
| ENST00000647125.1:c.*1299del | ENSP00000496062.1:n.*1299del | |
| ENST00000360256.8:c.1423del | ENSP00000353393.4:p.Glu475LysfsTer7 | |
| ENST00000483822.2:n.243del | ||
| NM_000132.3:c.1423del | NP_000123.1:p.Glu475LysfsTer7 | |
| XM_011531126.1:c.1318del | XP_011529428.1:p.Glu440LysfsTer7 | |
| NM_000132.4:c.1423del MANE Select | NP_000123.1:p.Glu475LysfsTer7 |