Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660793_152660796del , CM000669.2:g.152660793_152660796del | GRCh38 |
| NC_000007.13:g.152357878_152357881del , CM000669.1:g.152357878_152357881del | GRCh37 |
| NC_000007.12:g.151988811_151988814del | NCBI36 |
| NG_027988.1:g.20370_20373del | |
| NG_027988.2:g.20370_20373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11433_-47-11430del | ENSP00000513758.1:n.-47-11433_-47-11430del | |
| ENST00000698507.1:n.108-14_108-11del | ||
| ENST00000359321.2:c.40-14_40-11del MANE Select | ENSP00000352271.1:n.40-14_40-11del | |
| ENST00000359321.1:c.40-14_40-11del | ENSP00000352271.1:n.40-14_40-11del | |
| ENST00000495707.1:n.62-14_62-11del | ||
| NM_005431.1:c.40-14_40-11del | NP_005422.1:n.40-14_40-11del | |
| NM_005431.2:c.40-14_40-11del MANE Select | NP_005422.1:n.40-14_40-11del |