Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767507_28767522delinsGCCGCCGCCCCCGGCA , CM000676.2:g.28767507_28767522delinsGCCGCCGCCCCCGGCA | GRCh38 |
| NC_000014.8:g.29236713_29236728delinsGCCGCCGCCCCCGGCA , CM000676.1:g.29236713_29236728delinsGCCGCCGCCCCCGGCA | GRCh37 |
| NC_000014.7:g.28306464_28306479delinsGCCGCCGCCCCCGGCA | NCBI36 |
| NG_009367.1:g.5427_5442delinsGCCGCCGCCCCCGGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.228_243delinsGCCGCCGCCCCCGGCA | ENSP00000516406.1:p.Pro76= | |
| ENST00000313071.7:c.228_243delinsGCCGCCGCCCCCGGCA MANE Select | ENSP00000339004.3:p.Pro76= | |
| ENST00000313071.6:c.228_243delinsGCCGCCGCCCCCGGCA | ENSP00000339004.3:p.Pro76= | |
| NM_005249.4:c.228_243delinsGCCGCCGCCCCCGGCA | NP_005240.3:p.Pro76= | |
| NM_005249.5:c.228_243delinsGCCGCCGCCCCCGGCA MANE Select | NP_005240.3:p.Pro76= |