Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191848_23191853del , CM000670.2:g.23191848_23191853del | GRCh38 |
| NC_000008.10:g.23049361_23049366del , CM000670.1:g.23049361_23049366del | GRCh37 |
| NC_000008.9:g.23105306_23105311del | NCBI36 |
| NG_032107.1:g.38315_38320del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1248_1253del MANE Select | ENSP00000221132.3:p.Asn417_Lys418del | |
| ENST00000221132.7:c.1248_1253del | ENSP00000221132.3:p.Asn417_Lys418del | |
| ENST00000519862.1:n.303_308del | ||
| ENST00000613472.1:c.774_779del | ENSP00000480778.1:p.Asn259_Lys260del | |
| NM_003844.3:c.1248_1253del | NP_003835.3:p.Asn417_Lys418del | |
| NM_003844.4:c.1248_1253del MANE Select | NP_003835.3:p.Asn417_Lys418del |