Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739750_86739752delinsCAT , CM000670.2:g.86739750_86739752delinsCAT | GRCh38 |
| NC_000008.10:g.87751978_87751980delinsCAT , CM000670.1:g.87751978_87751980delinsCAT | GRCh37 |
| NC_000008.9:g.87821094_87821096delinsCAT | NCBI36 |
| NG_016980.1:g.8924_8926delinsATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-16_130-14delinsATG MANE Select | ENSP00000316605.5:n.130-16_130-14delinsATG | |
| ENST00000681746.1:c.130-16_130-14delinsATG | ENSP00000505959.1:n.130-16_130-14delinsATG | |
| ENST00000320005.5:c.130-16_130-14delinsATG | ENSP00000316605.5:n.130-16_130-14delinsATG | |
| ENST00000519777.1:n.112-16_112-14delinsATG | ||
| NM_019098.4:c.130-16_130-14delinsATG | NP_061971.3:n.130-16_130-14delinsATG | |
| NM_019098.5:c.130-16_130-14delinsATG MANE Select | NP_061971.3:n.130-16_130-14delinsATG |