Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304495_30304496del , CM000685.2:g.30304495_30304496del | GRCh38 |
| NC_000023.10:g.30322612_30322613del , CM000685.1:g.30322612_30322613del | GRCh37 |
| NC_000023.9:g.30232533_30232534del | NCBI36 |
| NG_009814.1:g.9885_9886del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*85_*86del MANE Select | ENSP00000368253.4:n.*85_*86del | |
| ENST00000378970.4:c.*85_*86del | ENSP00000368253.4:n.*85_*86del | |
| NM_000475.4:c.*85_*86del | NP_000466.2:n.*85_*86del | |
| NM_000475.5:c.*85_*86del MANE Select | NP_000466.2:n.*85_*86del |