Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87615803_87615820del , CM000666.2:g.87615803_87615820del | GRCh38 |
| NC_000004.11:g.88536955_88536972del , CM000666.1:g.88536955_88536972del | GRCh37 |
| NC_000004.10:g.88755979_88755996del | NCBI36 |
| NG_011595.1:g.12275_12292del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.3141_3158del MANE Select | ENSP00000498766.1:p.Ser1048_Asp1053del | |
| ENST00000282478.7:c.3141_3158del | ENSP00000282478.7:p.Ser1048_Asp1053del | |
| ENST00000399271.5:c.3141_3158del | ENSP00000382213.1:p.Ser1048_Asp1053del | |
| NM_014208.3:c.3141_3158del MANE Select | NP_055023.2:p.Ser1048_Asp1053del |