Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18399983_18399987del , CM000670.2:g.18399983_18399987del | GRCh38 |
| NC_000008.10:g.18257493_18257497del , CM000670.1:g.18257493_18257497del | GRCh37 |
| NC_000008.9:g.18301773_18301777del | NCBI36 |
| NG_012246.1:g.13739_13743del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.-6-15_-6-11del MANE Select | ENSP00000286479.3:n.-6-15_-6-11del | |
| ENST00000286479.3:c.-6-15_-6-11del | ENSP00000286479.3:n.-6-15_-6-11del | |
| ENST00000520116.1:c.-57-354_-57-350del | ENSP00000428416.1:n.-57-354_-57-350del | |
| NM_000015.2:c.-6-15_-6-11del | NP_000006.2:n.-6-15_-6-11del | |
| XM_011544358.1:c.-6-15_-6-11del | XP_011542660.1:n.-6-15_-6-11del | |
| XM_017012938.1:c.-6-15_-6-11del | XP_016868427.1:n.-6-15_-6-11del | |
| NM_000015.3:c.-6-15_-6-11del MANE Select | NP_000006.2:n.-6-15_-6-11del |