Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44540881_44540882delinsCT , CM000685.2:g.44540881_44540882delinsCT | GRCh38 |
| NC_000023.10:g.44400127_44400128delinsCT , CM000685.1:g.44400127_44400128delinsCT | GRCh37 |
| NC_000023.9:g.44285071_44285072delinsCT | NCBI36 |
| NG_021288.1:g.7094_7095delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378045.5:c.185+1063_185+1064delinsAG MANE Select | ENSP00000367284.4:n.185+1063_185+1064delinsAG | |
| ENST00000378045.4:c.185+1063_185+1064delinsAG | ENSP00000367284.4:n.185+1063_185+1064delinsAG | |
| ENST00000483115.1:n.360+1063_360+1064delinsAG | ||
| NM_173794.3:c.185+1063_185+1064delinsAG | NP_776155.1:n.185+1063_185+1064delinsAG | |
| NM_173794.4:c.185+1063_185+1064delinsAG MANE Select | NP_776155.1:n.185+1063_185+1064delinsAG |