Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759839_20759840delinsAT , CM000686.2:g.20759839_20759840delinsAT | GRCh38 |
| NC_000024.9:g.22921725_22921726delinsAT , CM000686.1:g.22921725_22921726delinsAT | GRCh37 |
| NC_000024.8:g.21331113_21331114delinsAT | NCBI36 |
| NG_032924.1:g.8772_8773delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.82-29_82-28delinsAT MANE Select | ENSP00000486252.1:n.82-29_82-28delinsAT | |
| ENST00000629237.1:c.82-29_82-28delinsAT | ENSP00000486252.1:n.82-29_82-28delinsAT | |
| NM_001039567.2:c.82-29_82-28delinsAT | NP_001034656.1:n.82-29_82-28delinsAT | |
| XM_011531423.1:c.31-29_31-28delinsAT | XP_011529725.1:n.31-29_31-28delinsAT | |
| NM_001039567.3:c.82-29_82-28delinsAT MANE Select | NP_001034656.1:n.82-29_82-28delinsAT |