Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352143_133352144del , CM000671.2:g.133352143_133352144del | GRCh38 |
| NC_000009.10:g.135208819_135208820del | NCBI36 |
| NG_008477.1:g.9367_9368del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001280787.1:c.427_428del | |
| NM_003172.3:c.754_755del | |
| NM_003172.4:c.754_755del | |
| ENST00000371974.7:c.754_755del | |
| ENST00000371974.8:c.754_755del | |
| ENST00000437995.1:n.664_665del | |
| ENST00000495952.5:n.744_745del | |
| ENST00000615505.4:c.427_428del | |
| XM_011518942.1:c.427_428del |