Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060471_219060472delinsCG , CM000664.2:g.219060471_219060472delinsCG | GRCh38 |
| NC_000002.11:g.219925193_219925194delinsCG , CM000664.1:g.219925193_219925194delinsCG | GRCh37 |
| NC_000002.10:g.219633437_219633438delinsCG | NCBI36 |
| NG_016741.1:g.5045_5046delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-5_-4delinsCG MANE Select | ENSP00000295731.5:n.-5_-4delinsCG | |
| NM_002181.3:c.-5_-4delinsCG | NP_002172.2:n.-5_-4delinsCG | |
| NM_002181.4:c.-5_-4delinsCG MANE Select | NP_002172.2:n.-5_-4delinsCG |