Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320660_119320661insG , CM000666.2:g.119320660_119320661insG | GRCh38 |
| NC_000004.11:g.120241815_120241816insG , CM000666.1:g.120241815_120241816insG | GRCh37 |
| NC_000004.10:g.120461263_120461264insG | NCBI36 |
| NG_011444.1:g.6501_6502insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+9_240+10insC MANE Select | ENSP00000274024.3:n.240+9_240+10insC | |
| ENST00000274024.3:c.240+9_240+10insC | ENSP00000274024.3:n.240+9_240+10insC | |
| NM_000134.3:c.240+9_240+10insC | NP_000125.2:n.240+9_240+10insC | |
| NM_000134.4:c.240+9_240+10insC MANE Select | NP_000125.2:n.240+9_240+10insC |