Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648913_152648914insAAAAAAAAA , CM000669.2:g.152648913_152648914insAAAAAAAAA | GRCh38 |
| NC_000007.13:g.152345998_152345999insAAAAAAAAA , CM000669.1:g.152345998_152345999insAAAAAAAAA | GRCh37 |
| NC_000007.12:g.151976931_151976932insAAAAAAAAA | NCBI36 |
| NG_027988.1:g.32257_32258insTTTTTTTTT | |
| NG_027988.2:g.32257_32258insTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.408_409insTTTTTTTTT | ENSP00000513758.1:p.Phe136_Ala137insPhePhePhe | |
| ENST00000359321.2:c.576_577insTTTTTTTTT MANE Select | ENSP00000352271.1:p.Phe192_Ala193insPhePhePhe | |
| ENST00000359321.1:c.576_577insTTTTTTTTT | ENSP00000352271.1:p.Phe192_Ala193insPhePhePhe | |
| ENST00000495707.1:n.598_599insTTTTTTTTT | ||
| NM_005431.1:c.576_577insTTTTTTTTT | NP_005422.1:p.Phe192_Ala193insPhePhePhe | |
| NM_005431.2:c.576_577insTTTTTTTTT MANE Select | NP_005422.1:p.Phe192_Ala193insPhePhePhe |