Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293093_44293094delinsAC , CM000683.2:g.44293093_44293094delinsAC | GRCh38 |
| NC_000021.8:g.45712976_45712977delinsAC , CM000683.1:g.45712976_45712977delinsAC | GRCh37 |
| NC_000021.7:g.44537404_44537405delinsAC | NCBI36 |
| NG_009556.1:g.12214_12215delinsAC , LRG_18:g.12214_12215delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1196_1197delinsAC MANE Select | NP_000374.1:p.Ala399Asp |
| ENST00000291582.6:c.1196_1197delinsAC MANE Select | ENSP00000291582.5:p.Ala399Asp |
| NM_000383.3:c.1196_1197delinsAC | NP_000374.1:p.Ala399Asp |
| ENST00000291582.5:c.1196_1197delinsAC | ENSP00000291582.5:p.Ala399Asp |
| ENST00000337909.5:n.657_658delinsAC | |
| ENST00000397994.8:n.590-15_590-14delinsAC | |
| ENST00000527919.5:n.1926_1927delinsAC | |
| ENST00000530812.5:n.2943_2944delinsAC | |
| XM_011529551.1:c.1193_1194delinsAC | XP_011527853.1:p.Ala398Asp |