Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875296_240875297delinsGC , CM000664.2:g.240875296_240875297delinsGC | GRCh38 |
| NC_000002.11:g.241814713_241814714delinsGC , CM000664.1:g.241814713_241814714delinsGC | GRCh37 |
| NC_000002.10:g.241463386_241463387delinsGC | NCBI36 |
| NG_008005.1:g.11552_11553delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.776+92_776+93delinsGC MANE Select | ENSP00000302620.3:n.776+92_776+93delinsGC | |
| ENST00000307503.3:c.776+92_776+93delinsGC | ENSP00000302620.3:n.776+92_776+93delinsGC | |
| ENST00000476698.1:n.428+92_428+93delinsGC | ||
| NM_000030.2:c.776+92_776+93delinsGC | NP_000021.1:n.776+92_776+93delinsGC | |
| NM_000030.3:c.776+92_776+93delinsGC MANE Select | NP_000021.1:n.776+92_776+93delinsGC |