Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013659_25013677delinsTGCCGCCGCCGCCGCCGCC , CM000685.2:g.25013659_25013677delinsTGCCGCCGCCGCCGCCGCC | GRCh38 |
| NC_000023.10:g.25031776_25031794delinsTGCCGCCGCCGCCGCCGCC , CM000685.1:g.25031776_25031794delinsTGCCGCCGCCGCCGCCGCC | GRCh37 |
| NC_000023.9:g.24941697_24941715delinsTGCCGCCGCCGCCGCCGCC | NCBI36 |
| NG_008281.1:g.7272_7290delinsGGCGGCGGCGGCGGCGGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.318_336delinsGGCGGCGGCGGCGGCGGCA MANE Select | ENSP00000368332.4:p.Ala106= | |
| ENST00000379044.4:c.318_336delinsGGCGGCGGCGGCGGCGGCA | ENSP00000368332.4:p.Ala106= | |
| NM_139058.2:c.318_336delinsGGCGGCGGCGGCGGCGGCA | NP_620689.1:p.Ala106= | |
| NM_139058.3:c.318_336delinsGGCGGCGGCGGCGGCGGCA MANE Select | NP_620689.1:p.Ala106= |