Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977897_149977903delinsCAGCCAA , CM000667.2:g.149977897_149977903delinsCAGCCAA | GRCh38 |
| NC_000005.9:g.149357460_149357466delinsCAGCCAA , CM000667.1:g.149357460_149357466delinsCAGCCAA | GRCh37 |
| NC_000005.8:g.149337653_149337659delinsCAGCCAA | NCBI36 |
| NG_007147.2:g.19015_19021delinsCAGCCAA , LRG_684:g.19015_19021delinsCAGCCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.477_483delinsCAGCCAA | ||
| ENST00000286298.5:c.245_251delinsCAGCCAA MANE Select | ENSP00000286298.4:p.Pro82= | |
| ENST00000286298.4:c.245_251delinsCAGCCAA | ENSP00000286298.4:p.Pro82= | |
| NM_000112.3:c.245_251delinsCAGCCAA , LRG_684t1:c.245_251delinsCAGCCAA | NP_000103.2:p.Pro82= | |
| XM_017009191.2:c.245_251delinsCAGCCAA | XP_016864680.1:p.Pro82= | |
| NM_000112.4:c.245_251delinsCAGCCAA MANE Select | NP_000103.2:p.Pro82= |