Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531349del , CM000680.2:g.31531349del | GRCh38 |
| NC_000018.9:g.29111312del , CM000680.1:g.29111312del | GRCh37 |
| NC_000018.8:g.27365310del | NCBI36 |
| NG_007072.3:g.38108del , LRG_397:g.38108del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.1208del | ||
| ENST00000683614.1:c.1208del | ||
| ENST00000261590.13:c.1280+97del MANE Select | ENSP00000261590.8:n.1280+97del | |
| ENST00000261590.12:c.1280+97del | ENSP00000261590.8:n.1280+97del | |
| NM_001943.3:c.1280+97del , LRG_397t1:c.1280+97del | NP_001934.2:n.1280+97del | |
| NM_001943.4:c.1280+97del | NP_001934.2:n.1280+97del | |
| XM_024451095.1:c.746+97del | XP_024306863.1:n.746+97del | |
| NM_001943.5:c.1280+97del MANE Select | NP_001934.2:n.1280+97del |