Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215782073_215782074insCACCCAGGCGT , CM000663.2:g.215782073_215782074insCACCCAGGCGT | GRCh38 |
| NC_000001.10:g.215955415_215955416insCACCCAGGCGT , CM000663.1:g.215955415_215955416insCACCCAGGCGT | GRCh37 |
| NC_000001.9:g.214022038_214022039insCACCCAGGCGT | NCBI36 |
| NG_009497.1:g.646323_646324insACGCCTGGGTG | |
| NG_009497.2:g.646375_646376insACGCCTGGGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10708_10709insACGCCTGGGTG MANE Select | ENSP00000305941.3:p.Cys3570TyrfsTer16 | |
| ENST00000674083.1:c.10708_10709insACGCCTGGGTG | ENSP00000501296.1:p.Cys3570TyrfsTer16 | |
| ENST00000307340.7:c.10708_10709insACGCCTGGGTG | ENSP00000305941.3:p.Cys3570TyrfsTer16 | |
| NM_206933.2:c.10708_10709insACGCCTGGGTG | NP_996816.2:p.Cys3570TyrfsTer16 | |
| NM_206933.3:c.10708_10709insACGCCTGGGTG | NP_996816.2:p.Cys3570TyrfsTer16 | |
| NM_206933.4:c.10708_10709insACGCCTGGGTG MANE Select | NP_996816.3:p.Cys3570TyrfsTer16 |