Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114714015_114714016insGGGC , CM000663.2:g.114714015_114714016insGGGC | GRCh38 |
| NC_000001.10:g.115256636_115256637insGGGC , CM000663.1:g.115256636_115256637insGGGC | GRCh37 |
| NC_000001.9:g.115058159_115058160insGGGC | NCBI36 |
| NG_007572.1:g.7879_7880insGCCC , LRG_92:g.7879_7880insGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-38_112-37insGCCC MANE Select | ENSP00000358548.4:n.112-38_112-37insGCCC | |
| ENST00000369535.4:c.112-38_112-37insGCCC | ENSP00000358548.4:n.112-38_112-37insGCCC | |
| NM_002524.4:c.112-38_112-37insGCCC | NP_002515.1:n.112-38_112-37insGCCC | |
| NM_002524.5:c.112-38_112-37insGCCC MANE Select | NP_002515.1:n.112-38_112-37insGCCC |