Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114043935_114043936delinsCG , CM000672.2:g.114043935_114043936delinsCG | GRCh38 |
| NC_000010.10:g.115803694_115803695delinsCG , CM000672.1:g.115803694_115803695delinsCG | GRCh37 |
| NC_000010.9:g.115793684_115793685delinsCG | NCBI36 |
| NG_012187.1:g.4889_4890delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-198_-197delinsCG MANE Select | ENSP00000358301.2:n.-198_-197delinsCG | |
| NM_000684.3:c.-198_-197delinsCG MANE Select | NP_000675.1:n.-198_-197delinsCG |