Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830536_112830544delinsTCCATCTTC , CM000664.2:g.112830536_112830544delinsTCCATCTTC | GRCh38 |
| NC_000002.11:g.113588113_113588121delinsTCCATCTTC , CM000664.1:g.113588113_113588121delinsTCCATCTTC | GRCh37 |
| NC_000002.10:g.113304584_113304592delinsTCCATCTTC | NCBI36 |
| NG_008851.1:g.11236_11244delinsGAAGATGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.627_635delinsGAAGATGGA MANE Select | ENSP00000263341.2:p.Lys209= | |
| ENST00000263341.6:c.627_635delinsGAAGATGGA | ENSP00000263341.2:p.Lys209= | |
| ENST00000491056.5:n.1434_1442delinsGAAGATGGA | ||
| NM_000576.2:c.627_635delinsGAAGATGGA | NP_000567.1:p.Lys209= | |
| XM_006712496.1:c.393_401delinsGAAGATGGA | XP_006712559.1:p.Lys131= | |
| XM_017003988.2:c.534_542delinsGAAGATGGA | XP_016859477.1:p.Lys178= | |
| NM_000576.3:c.627_635delinsGAAGATGGA MANE Select | NP_000567.1:p.Lys209= |