Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225666_5225667delinsGT , CM000673.2:g.5225666_5225667delinsGT | GRCh38 |
| NC_000011.9:g.5246896_5246897delinsGT , CM000673.1:g.5246896_5246897delinsGT | GRCh37 |
| NC_000011.8:g.5203472_5203473delinsGT | NCBI36 |
| NG_000007.3:g.71949_71950delinsAC | |
| NG_059281.1:g.6405_6406delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.375_376delinsAC | ENSP00000494175.1:p.Pro125= | |
| ENST00000335295.4:c.375_376delinsAC MANE Select | ENSP00000333994.3:p.Pro125= | |
| ENST00000475226.1:n.307_308delinsAC | ||
| ENST00000633227.1:c.*191_*192delinsAC | ENSP00000488004.1:n.*191_*192delinsAC | |
| NM_000518.4:c.375_376delinsAC | NP_000509.1:p.Pro125= | |
| NM_000518.5:c.375_376delinsAC MANE Select | NP_000509.1:p.Pro125= |