Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44290010_44290011delinsGC , CM000683.2:g.44290010_44290011delinsGC | GRCh38 |
| NC_000021.8:g.45709893_45709894delinsGC , CM000683.1:g.45709893_45709894delinsGC | GRCh37 |
| NC_000021.7:g.44534321_44534322delinsGC | NCBI36 |
| NG_009556.1:g.9131_9132delinsGC , LRG_18:g.9131_9132delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.821_822delinsGC MANE Select | ENSP00000291582.5:p.Gly274= | |
| ENST00000291582.5:c.821_822delinsGC | ENSP00000291582.5:p.Gly274= | |
| ENST00000527919.5:n.1554_1555delinsGC | ||
| ENST00000530812.5:n.2571_2572delinsGC | ||
| NM_000383.3:c.821_822delinsGC | NP_000374.1:p.Gly274= | |
| XM_011529551.1:c.821_822delinsGC | XP_011527853.1:p.Gly274= | |
| NM_000383.4:c.821_822delinsGC MANE Select | NP_000374.1:p.Gly274= |