Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584422_41584423insTT , CM000679.2:g.41584422_41584423insTT | GRCh38 |
| NC_000017.10:g.39740674_39740675insTT , CM000679.1:g.39740674_39740675insTT | GRCh37 |
| NC_000017.9:g.36994200_36994201insTT | NCBI36 |
| NG_008624.1:g.7473_7474insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.609-10_609-9insAA MANE Select | ENSP00000167586.6:n.609-10_609-9insAA | |
| ENST00000167586.6:c.609-10_609-9insAA | ENSP00000167586.6:n.609-10_609-9insAA | |
| ENST00000476662.1:n.49_50insAA | ||
| NM_000526.4:c.609-10_609-9insAA | NP_000517.2:n.609-10_609-9insAA | |
| NM_000526.5:c.609-10_609-9insAA MANE Select | NP_000517.3:n.609-10_609-9insAA |