Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226130_5226131delinsTG , CM000673.2:g.5226130_5226131delinsTG | GRCh38 |
| NC_000011.9:g.5247360_5247361delinsTG , CM000673.1:g.5247360_5247361delinsTG | GRCh37 |
| NC_000011.8:g.5203936_5203937delinsTG | NCBI36 |
| NG_000007.3:g.71485_71486delinsCA | |
| NG_059281.1:g.5941_5942delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-405_316-404delinsCA | ENSP00000494175.1:n.316-405_316-404delinsCA | |
| ENST00000335295.4:c.316-405_316-404delinsCA MANE Select | ENSP00000333994.3:n.316-405_316-404delinsCA | |
| ENST00000475226.1:n.248-405_248-404delinsCA | ||
| ENST00000633227.1:c.*132-405_*132-404delinsCA | ENSP00000488004.1:n.*132-405_*132-404delinsCA | |
| NM_000518.4:c.316-405_316-404delinsCA | NP_000509.1:n.316-405_316-404delinsCA | |
| NM_000518.5:c.316-405_316-404delinsCA MANE Select | NP_000509.1:n.316-405_316-404delinsCA |