Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632771_86632773delinsAAC , CM000670.2:g.86632771_86632773delinsAAC | GRCh38 |
| NC_000008.10:g.87644999_87645001delinsAAC , CM000670.1:g.87644999_87645001delinsAAC | GRCh37 |
| NC_000008.9:g.87714115_87714117delinsAAC | NCBI36 |
| NG_016980.1:g.115903_115905delinsGTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1299_1301delinsGTT MANE Select | ENSP00000316605.5:p.Val433= | |
| ENST00000681546.1:n.1119_1121delinsGTT | ||
| ENST00000681746.1:c.1299_1301delinsGTT | ENSP00000505959.1:p.Val433= | |
| ENST00000320005.5:c.1299_1301delinsGTT | ENSP00000316605.5:p.Val433= | |
| NM_019098.4:c.1299_1301delinsGTT | NP_061971.3:p.Val433= | |
| XM_011517138.1:c.885_887delinsGTT | XP_011515440.1:p.Val295= | |
| XM_011517138.2:c.885_887delinsGTT | XP_011515440.1:p.Val295= | |
| NM_019098.5:c.1299_1301delinsGTT MANE Select | NP_061971.3:p.Val433= |