Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350363_47350367del , CM000672.2:g.47350363_47350367del | GRCh38 |
| NC_000010.10:g.48388995_48388999del , CM000672.1:g.48388995_48388999del | GRCh37 |
| NC_000010.9:g.48009001_48009005del | NCBI36 |
| NG_029718.1:g.6993_6997del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1879_1883del MANE Select | ENSP00000463151.1:p.Gln627SerfsTer? | |
| ENST00000584701.1:c.1879_1883del | ENSP00000463151.1:p.Gln627SerfsTer? | |
| NM_002900.2:c.1879_1883del | NP_002891.1:p.Gln627SerfsTer? | |
| NM_002900.3:c.1879_1883del MANE Select | NP_002891.1:p.Gln627SerfsTer? |