Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225610_5225611delinsGT , CM000673.2:g.5225610_5225611delinsGT | GRCh38 |
| NC_000011.9:g.5246840_5246841delinsGT , CM000673.1:g.5246840_5246841delinsGT | GRCh37 |
| NC_000011.8:g.5203416_5203417delinsGT | NCBI36 |
| NG_000007.3:g.72005_72006delinsAC | |
| NG_059281.1:g.6461_6462delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.431_432delinsAC | ENSP00000494175.1:p.His144= | |
| ENST00000335295.4:c.431_432delinsAC MANE Select | ENSP00000333994.3:p.His144= | |
| ENST00000633227.1:c.*247_*248delinsAC | ENSP00000488004.1:n.*247_*248delinsAC | |
| NM_000518.4:c.431_432delinsAC | NP_000509.1:p.His144= | |
| NM_000518.5:c.431_432delinsAC MANE Select | NP_000509.1:p.His144= |