Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869031_240869169del , CM000664.2:g.240869031_240869169del | GRCh38 |
| NC_000002.11:g.241808448_241808586del , CM000664.1:g.241808448_241808586del | GRCh37 |
| NC_000002.10:g.241457121_241457259del | NCBI36 |
| NG_008005.1:g.5287_5425del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.165+1_166-1del | ||
| ENST00000307503.3:c.165+1_166-1del | ||
| ENST00000472436.1:n.185+1_186-1del | ||
| NM_000030.2:c.165+1_166-1del | ||
| XR_924060.1:n.405+1067_405+1205del | ||
| NM_000030.3:c.165+1_166-1del |