Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724651_174724661del , CM000667.2:g.174724651_174724661del | GRCh38 |
| NC_000005.9:g.174151654_174151664del , CM000667.1:g.174151654_174151664del | GRCh37 |
| NC_000005.8:g.174084260_174084270del | NCBI36 |
| NG_008124.1:g.5080_5090del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.-9_2del | ||
| ENST00000239243.6:c.-9_2del | ||
| ENST00000507785.2:c.-9_2del | ||
| NM_002449.4:c.-9_2del | ||
| NM_001363626.1:c.-9_2del | ||
| NM_002449.5:c.-9_2del | ||
| NM_001363626.2:c.-9_2del |