Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444906_2444907insGTGC , CM000673.2:g.2444906_2444907insGTGC | GRCh38 |
| NC_000011.9:g.2466136_2466137insGTGC , CM000673.1:g.2466136_2466137insGTGC | GRCh37 |
| NC_000011.8:g.2422712_2422713insGTGC | NCBI36 |
| NG_008935.1:g.4916_4917insGTGC , LRG_287:g.4916_4917insGTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+198_23+199insGTGC | ENSP00000434560.2:n.23+198_23+199insGTGC | |
| ENST00000496887.6:c.23+198_23+199insGTGC | ENSP00000434560.1:n.23+198_23+199insGTGC |