Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209618596_209618688del , CM000663.2:g.209618596_209618688del | GRCh38 |
| NC_000001.10:g.209791941_209792033del , CM000663.1:g.209791941_209792033del | GRCh37 |
| NC_000001.9:g.207858564_207858656del | NCBI36 |
| NG_007116.1:g.38789_38881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.2702-28_2766del | ||
| ENST00000356082.8:c.2702-28_2766del | ||
| ENST00000367030.7:c.2702-28_2766del | ||
| ENST00000391911.5:c.2702-28_2766del | ||
| ENST00000455193.1:c.-120_-28del | ENSP00000398683.1:n.-120_-28del | |
| NM_000228.2:c.2702-28_2766del | ||
| NM_001017402.1:c.2702-28_2766del | ||
| NM_001127641.1:c.2702-28_2766del | ||
| XM_005273124.3:c.2702-28_2766del | ||
| XM_005273124.4:c.2702-28_2766del | ||
| XM_017001272.2:c.2510-28_2574del | ||
| NM_000228.3:c.2702-28_2766del | ||
| NM_001017402.2:c.2702-28_2766del |