Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887168_43887170del , CM000664.2:g.43887168_43887170del | GRCh38 |
| NC_000002.11:g.44114307_44114309del , CM000664.1:g.44114307_44114309del | GRCh37 |
| NC_000002.10:g.43967811_43967813del | NCBI36 |
| NG_008247.1:g.113837_113839del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2383_2385del | ||
| ENST00000684454.1:n.9480_9482del | ||
| ENST00000260665.12:c.*1431_*1433del MANE Select | ENSP00000260665.7:n.*1431_*1433del | |
| ENST00000260665.11:c.*1431_*1433del | ENSP00000260665.7:n.*1431_*1433del | |
| NM_133259.3:c.*1431_*1433del | NP_573566.2:n.*1431_*1433del | |
| XR_002958896.1:n.5798_5800del | ||
| NM_133259.4:c.*1431_*1433del MANE Select | NP_573566.2:n.*1431_*1433del |