Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612184_41612187delinsTGAA , CM000679.2:g.41612184_41612187delinsTGAA | GRCh38 |
| NC_000017.10:g.39768436_39768439delinsTGAA , CM000679.1:g.39768436_39768439delinsTGAA | GRCh37 |
| NC_000017.9:g.37021962_37021965delinsTGAA | NCBI36 |
| NG_008301.1:g.5641_5644delinsTTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.502_505delinsTTCA MANE Select | ENSP00000301653.3:p.Phe168= | |
| ENST00000301653.8:c.502_505delinsTTCA | ENSP00000301653.3:p.Phe168= | |
| ENST00000588319.1:n.579_582delinsTTCA | ||
| ENST00000593067.1:c.-213_-210delinsTTCA | ENSP00000467124.1:n.-213_-210delinsTTCA | |
| NM_005557.3:c.502_505delinsTTCA | NP_005548.2:p.Phe168= | |
| NM_005557.4:c.502_505delinsTTCA MANE Select | NP_005548.2:p.Phe168= |