Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767471_28767497del , CM000676.2:g.28767471_28767497del | GRCh38 |
| NC_000014.8:g.29236677_29236703del , CM000676.1:g.29236677_29236703del | GRCh37 |
| NC_000014.7:g.28306428_28306454del | NCBI36 |
| NG_009367.1:g.5391_5417del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.192_218del | ENSP00000516406.1:p.Pro65_Gln73del | |
| ENST00000313071.7:c.192_218del MANE Select | ENSP00000339004.3:p.Pro65_Gln73del | |
| ENST00000313071.6:c.192_218del | ENSP00000339004.3:p.Pro65_Gln73del | |
| NM_005249.4:c.192_218del | NP_005240.3:p.Pro65_Gln73del | |
| NM_005249.5:c.192_218del MANE Select | NP_005240.3:p.Pro65_Gln73del |