Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191879_23191880delinsAG , CM000670.2:g.23191879_23191880delinsAG | GRCh38 |
| NC_000008.10:g.23049392_23049393delinsAG , CM000670.1:g.23049392_23049393delinsAG | GRCh37 |
| NC_000008.9:g.23105337_23105338delinsAG | NCBI36 |
| NG_032107.1:g.38288_38289delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1221_1222delinsCT MANE Select | ENSP00000221132.3:p.Ala407= | |
| ENST00000221132.7:c.1221_1222delinsCT | ENSP00000221132.3:p.Ala407= | |
| ENST00000519862.1:n.276_277delinsCT | ||
| ENST00000613472.1:c.747_748delinsCT | ENSP00000480778.1:p.Ala249= | |
| NM_003844.3:c.1221_1222delinsCT | NP_003835.3:p.Ala407= | |
| NM_003844.4:c.1221_1222delinsCT MANE Select | NP_003835.3:p.Ala407= |