Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107772091_107772093dup , CM000669.2:g.107772091_107772093dup | GRCh38 |
| NC_000007.13:g.107412536_107412538dup , CM000669.1:g.107412536_107412538dup | GRCh37 |
| NC_000007.12:g.107199772_107199774dup | NCBI36 |
| NG_008046.1:g.36142_36144dup , LRG_683:g.36142_36144dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000111.3:c.2024_2026dup MANE Select | NP_000102.1:p.Ile675_Arg676insIle |
| ENST00000340010.10:c.2024_2026dup MANE Select | ENSP00000345873.5:p.Ile675_Arg676insIle |
| NM_000111.2:c.2024_2026dup , LRG_683t1:c.2024_2026dup | NP_000102.1:p.Ile675_Arg676insIle |
| ENST00000340010.9:c.2024_2026dup | ENSP00000345873.5:p.Ile675_Arg676insIle |
| ENST00000379083.7:c.*1581_*1583dup | ENSP00000368375.3:n.*1581_*1583dup |
| XM_011515867.1:c.2024_2026dup | XP_011514169.1:p.Ile675_Arg676insIle |