Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535262_81535265delinsAAAG , CM000665.2:g.81535262_81535265delinsAAAG | GRCh38 |
| NC_000003.11:g.81584413_81584416delinsAAAG , CM000665.1:g.81584413_81584416delinsAAAG | GRCh37 |
| NC_000003.10:g.81667103_81667106delinsAAAG | NCBI36 |
| NG_011810.1:g.231536_231539delinsCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1864_1867delinsCTTT MANE Select | ENSP00000410833.2:p.Leu622= | |
| ENST00000429644.6:c.1864_1867delinsCTTT | ENSP00000410833.2:p.Leu622= | |
| ENST00000484687.1:n.265_268delinsCTTT | ||
| ENST00000489715.1:c.1741_1744delinsCTTT | ENSP00000419638.1:p.Leu581= | |
| NM_000158.3:c.1864_1867delinsCTTT | NP_000149.3:p.Leu622= | |
| NM_000158.4:c.1864_1867delinsCTTT MANE Select | NP_000149.4:p.Leu622= |