Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44115633_44115636delinsGACC , CM000682.2:g.44115633_44115636delinsGACC | GRCh38 |
| NC_000020.10:g.42744273_42744276delinsGACC , CM000682.1:g.42744273_42744276delinsGACC | GRCh37 |
| NC_000020.9:g.42177687_42177690delinsGACC | NCBI36 |
| NG_031867.1:g.76943_76946delinsGGTC , LRG_394:g.76943_76946delinsGGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.2010+29_2010+32delinsGGTC MANE Select | ENSP00000362071.3:n.2010+29_2010+32delinsGGTC | |
| ENST00000372980.3:c.2010+29_2010+32delinsGGTC | ENSP00000362071.3:n.2010+29_2010+32delinsGGTC | |
| NM_020433.4:c.2010+29_2010+32delinsGGTC , LRG_394t1:c.2010+29_2010+32delinsGGTC | NP_065166.2:n.2010+29_2010+32delinsGGTC | |
| XM_006723832.2:c.2010+29_2010+32delinsGGTC | XP_006723895.1:n.2010+29_2010+32delinsGGTC | |
| NM_020433.5:c.2010+29_2010+32delinsGGTC MANE Select | NP_065166.2:n.2010+29_2010+32delinsGGTC |