Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977905_149977906delinsGC , CM000667.2:g.149977905_149977906delinsGC | GRCh38 |
| NC_000005.9:g.149357468_149357469delinsGC , CM000667.1:g.149357468_149357469delinsGC | GRCh37 |
| NC_000005.8:g.149337661_149337662delinsGC | NCBI36 |
| NG_007147.2:g.19023_19024delinsGC , LRG_684:g.19023_19024delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.485_486delinsGC | ||
| ENST00000286298.5:c.253_254delinsGC MANE Select | ENSP00000286298.4:p.Ala85= | |
| ENST00000286298.4:c.253_254delinsGC | ENSP00000286298.4:p.Ala85= | |
| NM_000112.3:c.253_254delinsGC , LRG_684t1:c.253_254delinsGC | NP_000103.2:p.Ala85= | |
| XM_017009191.2:c.253_254delinsGC | XP_016864680.1:p.Ala85= | |
| NM_000112.4:c.253_254delinsGC MANE Select | NP_000103.2:p.Ala85= |