Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191838_23191839insATTAAAAAA , CM000670.2:g.23191838_23191839insATTAAAAAA | GRCh38 |
| NC_000008.10:g.23049351_23049352insATTAAAAAA , CM000670.1:g.23049351_23049352insATTAAAAAA | GRCh37 |
| NC_000008.9:g.23105296_23105297insATTAAAAAA | NCBI36 |
| NG_032107.1:g.38329_38330insTTTTTTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1262_1263insTTTTTTAAT MANE Select | ENSP00000221132.3:p.Arg421_Asn422insPheLeuMet | |
| ENST00000221132.7:c.1262_1263insTTTTTTAAT | ENSP00000221132.3:p.Arg421_Asn422insPheLeuMet | |
| ENST00000519862.1:n.317_318insTTTTTTAAT | ||
| ENST00000613472.1:c.788_789insTTTTTTAAT | ENSP00000480778.1:p.Arg263_Asn264insPheLeuMet | |
| NM_003844.3:c.1262_1263insTTTTTTAAT | NP_003835.3:p.Arg421_Asn422insPheLeuMet | |
| NM_003844.4:c.1262_1263insTTTTTTAAT MANE Select | NP_003835.3:p.Arg421_Asn422insPheLeuMet |