Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977948_149977949delinsTC , CM000667.2:g.149977948_149977949delinsTC | GRCh38 |
| NC_000005.9:g.149357511_149357512delinsTC , CM000667.1:g.149357511_149357512delinsTC | GRCh37 |
| NC_000005.8:g.149337704_149337705delinsTC | NCBI36 |
| NG_007147.2:g.19066_19067delinsTC , LRG_684:g.19066_19067delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.528_529delinsTC | ||
| ENST00000286298.5:c.296_297delinsTC MANE Select | ENSP00000286298.4:p.Leu99= | |
| ENST00000286298.4:c.296_297delinsTC | ENSP00000286298.4:p.Leu99= | |
| NM_000112.3:c.296_297delinsTC , LRG_684t1:c.296_297delinsTC | NP_000103.2:p.Leu99= | |
| XM_017009191.2:c.296_297delinsTC | XP_016864680.1:p.Leu99= | |
| NM_000112.4:c.296_297delinsTC MANE Select | NP_000103.2:p.Leu99= |