Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046568_136046569delinsGA , CM000667.2:g.136046568_136046569delinsGA | GRCh38 |
| NC_000005.9:g.135382257_135382258delinsGA , CM000667.1:g.135382257_135382258delinsGA | GRCh37 |
| NC_000005.8:g.135410156_135410157delinsGA | NCBI36 |
| NG_012646.1:g.22674_22675delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.459+73_459+74delinsGA MANE Select | ENSP00000416330.2:n.459+73_459+74delinsGA | |
| ENST00000442011.6:c.459+73_459+74delinsGA | ENSP00000416330.2:n.459+73_459+74delinsGA | |
| ENST00000506699.5:n.597_598delinsGA | ||
| ENST00000507018.5:c.437+12_437+13delinsGA | ||
| ENST00000515433.1:n.824_825delinsGA | ||
| NM_000358.2:c.459+73_459+74delinsGA | NP_000349.1:n.459+73_459+74delinsGA | |
| NM_000358.3:c.459+73_459+74delinsGA MANE Select | NP_000349.1:n.459+73_459+74delinsGA |