Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660570del , CM000669.2:g.152660570del | GRCh38 |
| NC_000007.13:g.152357655del , CM000669.1:g.152357655del | GRCh37 |
| NC_000007.12:g.151988588del | NCBI36 |
| NG_027988.1:g.20596del | |
| NG_027988.2:g.20596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11207del | ENSP00000513758.1:n.-47-11207del | |
| ENST00000698507.1:n.320del | ||
| ENST00000359321.2:c.121+131del MANE Select | ENSP00000352271.1:n.121+131del | |
| ENST00000359321.1:c.121+131del | ENSP00000352271.1:n.121+131del | |
| ENST00000495707.1:n.143+131del | ||
| NM_005431.1:c.121+131del | NP_005422.1:n.121+131del | |
| NM_005431.2:c.121+131del MANE Select | NP_005422.1:n.121+131del |