Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288347_44288348delinsAT , CM000683.2:g.44288347_44288348delinsAT | GRCh38 |
| NC_000021.8:g.45708230_45708231delinsAT , CM000683.1:g.45708230_45708231delinsAT | GRCh37 |
| NC_000021.7:g.44532658_44532659delinsAT | NCBI36 |
| NG_009556.1:g.7468_7469delinsAT , LRG_18:g.7468_7469delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.541_542delinsAT MANE Select | ENSP00000291582.5:p.Ile181= | |
| ENST00000291582.5:c.541_542delinsAT | ENSP00000291582.5:p.Ile181= | |
| ENST00000527919.5:n.1085_1086delinsAT | ||
| ENST00000530812.5:n.1093_1094delinsAT | ||
| NM_000383.3:c.541_542delinsAT | NP_000374.1:p.Ile181= | |
| XM_011529551.1:c.541_542delinsAT | XP_011527853.1:p.Ile181= | |
| NM_000383.4:c.541_542delinsAT MANE Select | NP_000374.1:p.Ile181= |