Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425615_84425618del , CM000664.2:g.84425615_84425618del | GRCh38 |
| NC_000002.11:g.84652739_84652742del , CM000664.1:g.84652739_84652742del | GRCh37 |
| NC_000002.10:g.84506250_84506253del | NCBI36 |
| NG_016755.1:g.38847_38850del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.826-13_826-10del MANE Select | ENSP00000377446.2:n.826-13_826-10del | |
| ENST00000651342.1:c.*266-13_*266-10del | ENSP00000498471.1:n.*266-13_*266-10del | |
| ENST00000393868.6:c.826-13_826-10del | ENSP00000377446.2:n.826-13_826-10del | |
| ENST00000484365.1:n.1321_1324del | ||
| ENST00000487809.1:n.573-13_573-10del | ||
| ENST00000491123.5:n.672-13_672-10del | ||
| NM_003849.3:c.826-13_826-10del | NP_003840.2:n.826-13_826-10del | |
| NM_003849.4:c.826-13_826-10del MANE Select | NP_003840.2:n.826-13_826-10del |