Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518236_92518301del , CM000669.2:g.92518236_92518301del | GRCh38 |
| NC_000007.13:g.92147550_92147615del , CM000669.1:g.92147550_92147615del | GRCh37 |
| NC_000007.12:g.91985486_91985551del | NCBI36 |
| NG_008341.1:g.15233_15298del | |
| NG_008341.2:g.15233_15298del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.358-44_379del | ||
| ENST00000248633.8:c.358-44_379del | ||
| ENST00000428214.5:c.358-44_379del | ||
| ENST00000438045.5:c.273+3803_273+3868del | ENSP00000410438.1:n.273+3803_273+3868del | |
| ENST00000484913.5:n.397-44_418del | ||
| NM_000466.2:c.358-44_379del | ||
| NM_001282677.1:c.358-44_379del | ||
| NM_001282678.1:c.-267-44_-246del | ||
| XR_242246.3:n.454-44_475del | ||
| XR_242246.5:n.405-44_426del | ||
| NM_000466.3:c.358-44_379del | ||
| NM_001282677.2:c.358-44_379del | ||
| NM_001282678.2:c.-267-44_-246del |