Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288410_44288411delinsGC , CM000683.2:g.44288410_44288411delinsGC | GRCh38 |
| NC_000021.8:g.45708293_45708294delinsGC , CM000683.1:g.45708293_45708294delinsGC | GRCh37 |
| NC_000021.7:g.44532721_44532722delinsGC | NCBI36 |
| NG_009556.1:g.7531_7532delinsGC , LRG_18:g.7531_7532delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.604_605delinsGC MANE Select | ENSP00000291582.5:p.Ala202= | |
| ENST00000291582.5:c.604_605delinsGC | ENSP00000291582.5:p.Ala202= | |
| ENST00000527919.5:n.1148_1149delinsGC | ||
| ENST00000530812.5:n.1156_1157delinsGC | ||
| NM_000383.3:c.604_605delinsGC | NP_000374.1:p.Ala202= | |
| XM_011529551.1:c.604_605delinsGC | XP_011527853.1:p.Ala202= | |
| NM_000383.4:c.604_605delinsGC MANE Select | NP_000374.1:p.Ala202= |