Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119185958_119185959insTTTTTTTTTTTTTT , CM000666.2:g.119185958_119185959insTTTTTTTTTTTTTT | GRCh38 |
| NC_000004.11:g.120107113_120107114insTTTTTTTTTTTTTT , CM000666.1:g.120107113_120107114insTTTTTTTTTTTTTT | GRCh37 |
| NC_000004.10:g.120326561_120326562insTTTTTTTTTTTTTT | NCBI36 |
| NG_029747.1:g.55175_55176insTTTTTTTTTTTTTT , LRG_396:g.55175_55176insTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.561-8_561-7insTTTTTTTTTTTTTT MANE Select | ENSP00000306997.6:n.561-8_561-7insTTTTTTTTTTTTTT | |
| ENST00000307128.5:c.561-8_561-7insTTTTTTTTTTTTTT | ENSP00000306997.5:n.561-8_561-7insTTTTTTTTTTTTTT | |
| NM_016599.4:c.561-8_561-7insTTTTTTTTTTTTTT , LRG_396t1:c.561-8_561-7insTTTTTTTTTTTTTT | NP_057683.1:n.561-8_561-7insTTTTTTTTTTTTTT | |
| NM_016599.5:c.561-8_561-7insTTTTTTTTTTTTTT MANE Select | NP_057683.1:n.561-8_561-7insTTTTTTTTTTTTTT |