Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1234109_1234110insCCCCCC , CM000669.2:g.1234109_1234110insCCCCCC | GRCh38 |
| NC_000007.13:g.1273745_1273746insCCCCCC , CM000669.1:g.1273745_1273746insCCCCCC | GRCh37 |
| NC_000007.12:g.1240271_1240272insCCCCCC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316333.9:c.450+414_450+415insCCCCCC MANE Select | ENSP00000314480.8:n.450+414_450+415insCCC... | |
| ENST00000316333.8:c.450+414_450+415insCCCCCC | ENSP00000314480.8:n.450+414_450+415insCCC... | |
| NM_001080461.1:c.450+414_450+415insCCCCCC | NP_001073930.1:n.450+414_450+415insCCCCCC... | |
| NM_001080461.2:c.450+414_450+415insCCCCCC | NP_001073930.1:n.450+414_450+415insCCCCCC... | |
| NM_001080461.3:c.450+414_450+415insCCCCCC MANE Select | NP_001073930.1:n.450+414_450+415insCCCCCC... |