Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191849_23191850delinsTG , CM000670.2:g.23191849_23191850delinsTG | GRCh38 |
| NC_000008.10:g.23049362_23049363delinsTG , CM000670.1:g.23049362_23049363delinsTG | GRCh37 |
| NC_000008.9:g.23105307_23105308delinsTG | NCBI36 |
| NG_032107.1:g.38318_38319delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1251_1252delinsCA MANE Select | ENSP00000221132.3:p.Asn417= | |
| ENST00000221132.7:c.1251_1252delinsCA | ENSP00000221132.3:p.Asn417= | |
| ENST00000519862.1:n.306_307delinsCA | ||
| ENST00000613472.1:c.777_778delinsCA | ENSP00000480778.1:p.Asn259= | |
| NM_003844.3:c.1251_1252delinsCA | NP_003835.3:p.Asn417= | |
| NM_003844.4:c.1251_1252delinsCA MANE Select | NP_003835.3:p.Asn417= |