Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882717_100882718insACACCCAACA , CM000676.2:g.100882717_100882718insACACCCAACA | GRCh38 |
| NC_000014.8:g.101349054_101349055insACACCCAACA , CM000676.1:g.101349054_101349055insACACCCAACA | GRCh37 |
| NC_000014.7:g.100418807_100418808insACACCCAACA | NCBI36 |
| NG_045001.1:g.7130_7131insTGTTGGGTGT | |
| NG_045000.5:g.51449_51450insACACCCAACA | |
| NG_045000.6:g.51449_51450insACACCCAACA | |
| NG_045001.2:g.26005_26006insTGTTGGGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.2071_2072insTGTTGGGTGT MANE Select | ENSP00000497482.1:p.Gly691ValfsTer8 | |
| ENST00000534062.1:c.2071_2072insTGTTGGGTGT | ENSP00000435342.1:p.Gly691ValfsTer8 | |
| NM_001134888.2:c.2071_2072insTGTTGGGTGT | NP_001128360.1:p.Gly691ValfsTer8 | |
| NM_001134888.3:c.2071_2072insTGTTGGGTGT MANE Select | NP_001128360.1:p.Gly691ValfsTer8 |