Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117113_19117114delinsGC , CM000669.2:g.19117113_19117114delinsGC | GRCh38 |
| NC_000007.13:g.19156736_19156737delinsGC , CM000669.1:g.19156736_19156737delinsGC | GRCh37 |
| NC_000007.12:g.19123261_19123262delinsGC | NCBI36 |
| NG_008114.1:g.5559_5560delinsGC | |
| NG_008114.2:g.5559_5560delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.208_209delinsGC MANE Select | ENSP00000242261.5:p.Ala70= | |
| ENST00000242261.5:c.208_209delinsGC | ENSP00000242261.5:p.Ala70= | |
| ENST00000354571.5:c.5_6delinsGC | ||
| NM_000474.3:c.208_209delinsGC | NP_000465.1:p.Ala70= | |
| XM_011515496.1:c.208_209delinsGC | XP_011513798.1:p.Ala70= | |
| NR_149001.1:n.559_560delinsGC | ||
| NM_000474.4:c.208_209delinsGC MANE Select | NP_000465.1:p.Ala70= | |
| NR_149001.2:n.523_524delinsGC |