Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632825_86632827delinsGTT , CM000670.2:g.86632825_86632827delinsGTT | GRCh38 |
| NC_000008.10:g.87645053_87645055delinsGTT , CM000670.1:g.87645053_87645055delinsGTT | GRCh37 |
| NC_000008.9:g.87714169_87714171delinsGTT | NCBI36 |
| NG_016980.1:g.115849_115851delinsAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1245_1247delinsAAC MANE Select | ENSP00000316605.5:p.Gln415= | |
| ENST00000681546.1:n.1065_1067delinsAAC | ||
| ENST00000681746.1:c.1245_1247delinsAAC | ENSP00000505959.1:p.Gln415= | |
| ENST00000320005.5:c.1245_1247delinsAAC | ENSP00000316605.5:p.Gln415= | |
| NM_019098.4:c.1245_1247delinsAAC | NP_061971.3:p.Gln415= | |
| XM_011517138.1:c.831_833delinsAAC | XP_011515440.1:p.Gln277= | |
| XM_011517138.2:c.831_833delinsAAC | XP_011515440.1:p.Gln277= | |
| NM_019098.5:c.1245_1247delinsAAC MANE Select | NP_061971.3:p.Gln415= |