Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74622113del , CM000671.2:g.74622113del | GRCh38 |
| NC_000009.11:g.77237029del , CM000671.1:g.77237029del | GRCh37 |
| NC_000009.10:g.76426849del | NCBI36 |
| NG_046926.2:g.129778del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376896.8:c.8-8169del MANE Select | ENSP00000366093.2:n.8-8169del | |
| ENST00000376896.7:c.8-8169del | ENSP00000366093.2:n.8-8169del | |
| ENST00000396204.2:c.40+6474del | ENSP00000379507.2:n.40+6474del | |
| NM_006914.3:c.8-8169del | NP_008845.2:n.8-8169del | |
| NM_001365023.1:c.40+6474del | NP_001351952.1:n.40+6474del | |
| NM_006914.4:c.8-8169del MANE Select | NP_008845.2:n.8-8169del |