Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44115650_44115651delinsGC , CM000682.2:g.44115650_44115651delinsGC | GRCh38 |
| NC_000020.10:g.42744290_42744291delinsGC , CM000682.1:g.42744290_42744291delinsGC | GRCh37 |
| NC_000020.9:g.42177704_42177705delinsGC | NCBI36 |
| NG_031867.1:g.76928_76929delinsGC , LRG_394:g.76928_76929delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.2010+14_2010+15delinsGC MANE Select | ENSP00000362071.3:n.2010+14_2010+15delinsGC | |
| ENST00000372980.3:c.2010+14_2010+15delinsGC | ENSP00000362071.3:n.2010+14_2010+15delinsGC | |
| NM_020433.4:c.2010+14_2010+15delinsGC , LRG_394t1:c.2010+14_2010+15delinsGC | NP_065166.2:n.2010+14_2010+15delinsGC | |
| XM_006723832.2:c.2010+14_2010+15delinsGC | XP_006723895.1:n.2010+14_2010+15delinsGC | |
| NM_020433.5:c.2010+14_2010+15delinsGC MANE Select | NP_065166.2:n.2010+14_2010+15delinsGC |