Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759821_20759822delinsAG , CM000686.2:g.20759821_20759822delinsAG | GRCh38 |
| NC_000024.9:g.22921707_22921708delinsAG , CM000686.1:g.22921707_22921708delinsAG | GRCh37 |
| NC_000024.8:g.21331095_21331096delinsAG | NCBI36 |
| NG_032924.1:g.8754_8755delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.82-47_82-46delinsAG MANE Select | ENSP00000486252.1:n.82-47_82-46delinsAG | |
| ENST00000629237.1:c.82-47_82-46delinsAG | ENSP00000486252.1:n.82-47_82-46delinsAG | |
| NM_001039567.2:c.82-47_82-46delinsAG | NP_001034656.1:n.82-47_82-46delinsAG | |
| XM_011531423.1:c.31-47_31-46delinsAG | XP_011529725.1:n.31-47_31-46delinsAG | |
| NM_001039567.3:c.82-47_82-46delinsAG MANE Select | NP_001034656.1:n.82-47_82-46delinsAG |