Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612382_41612383delinsCA , CM000679.2:g.41612382_41612383delinsCA | GRCh38 |
| NC_000017.10:g.39768634_39768635delinsCA , CM000679.1:g.39768634_39768635delinsCA | GRCh37 |
| NC_000017.9:g.37022160_37022161delinsCA | NCBI36 |
| NG_008301.1:g.5445_5446delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.306_307delinsTG MANE Select | ENSP00000301653.3:p.Phe102= | |
| ENST00000301653.8:c.306_307delinsTG | ENSP00000301653.3:p.Phe102= | |
| ENST00000588319.1:n.383_384delinsTG | ||
| ENST00000593067.1:c.-312-97_-312-96delinsTG | ENSP00000467124.1:n.-312-97_-312-96delinsTG | |
| NM_005557.3:c.306_307delinsTG | NP_005548.2:p.Phe102= | |
| NM_005557.4:c.306_307delinsTG MANE Select | NP_005548.2:p.Phe102= |