Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647133_68647140delinsTGGCAAGC , CM000666.2:g.68647133_68647140delinsTGGCAAGC | GRCh38 |
| NC_000004.11:g.69512851_69512858delinsTGGCAAGC , CM000666.1:g.69512851_69512858delinsTGGCAAGC | GRCh37 |
| NC_000004.10:g.69195446_69195453delinsTGGCAAGC | NCBI36 |
| NG_052676.1:g.28637_28644delinsGCTTGCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1557_1564delinsGCTTGCCA MANE Select | ENSP00000341045.5:p.Lys519= | |
| ENST00000338206.5:c.1557_1564delinsGCTTGCCA | ENSP00000341045.5:p.Lys519= | |
| ENST00000616841.4:c.1557_1564delinsGCTTGCCA | ENSP00000482004.1:p.Lys519= | |
| NM_001076.3:c.1557_1564delinsGCTTGCCA | NP_001067.2:p.Lys519= | |
| NM_001076.4:c.1557_1564delinsGCTTGCCA MANE Select | NP_001067.2:p.Lys519= |