Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904084_154904086delinsATGTG , CM000685.2:g.154904084_154904086delinsATGTG | GRCh38 |
| NC_000023.10:g.154132359_154132361delinsATGTG , CM000685.1:g.154132359_154132361delinsATGTG | GRCh37 |
| NC_000023.9:g.153785553_153785555delinsATGTG | NCBI36 |
| NG_011403.1:g.123638_123640delinsCACAT | |
| NG_011403.2:g.123638_123640delinsCACAT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.5818_5820delinsCACAT MANE Select | NP_000123.1:p.Ile1940HisfsTer6 |
| ENST00000360256.9:c.5818_5820delinsCACAT MANE Select | ENSP00000353393.4:p.Ile1940HisfsTer6 |
| NM_000132.3:c.5818_5820delinsCACAT | NP_000123.1:p.Ile1940HisfsTer6 |
| ENST00000360256.8:c.5818_5820delinsCACAT | ENSP00000353393.4:p.Ile1940HisfsTer6 |
| XM_011531126.1:c.5713_5715delinsCACAT | XP_011529428.1:p.Ile1905HisfsTer6 |