Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132868738_132868744delinsTTTTCTG , CM000667.2:g.132868738_132868744delinsTTTTCTG | GRCh38 |
| NC_000005.9:g.132204430_132204436delinsTTTTCTG , CM000667.1:g.132204430_132204436delinsTTTTCTG | GRCh37 |
| NC_000005.8:g.132232329_132232335delinsTTTTCTG | NCBI36 |
| NG_012221.1:g.7112_7118delinsTTTTCTG | |
| NG_047051.1:g.3141_3147delinsCAGAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378670.8:c.*1156_*1162delinsTTTTCTG MANE Select | ENSP00000367939.3:n.*1156_*1162delinsTTTTCTG | |
| NM_014402.4:c.*1156_*1162delinsTTTTCTG | NP_055217.2:n.*1156_*1162delinsTTTTCTG | |
| NM_014402.5:c.*1156_*1162delinsTTTTCTG MANE Select | NP_055217.2:n.*1156_*1162delinsTTTTCTG |