Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733746del , CM000665.2:g.8733746del | GRCh38 |
| NC_000003.11:g.8775432del , CM000665.1:g.8775432del | GRCh37 |
| NC_000003.10:g.8750432del | NCBI36 |
| NG_008797.2:g.4937del , LRG_329:g.4937del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435138.5:c.64+8713del | ENSP00000412333.1:n.64+8713del | |
| ENST00000478513.1:n.335+8713del | ||
| XR_940435.1:n.330+8713del | ||
| XM_017006530.1:c.-283+8713del | XP_016862019.1:n.-283+8713del |