Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618369_233618370insCC , CM000664.2:g.233618369_233618370insCC | GRCh38 |
| NC_000002.11:g.234527015_234527016insCC , CM000664.1:g.234527015_234527016insCC | GRCh37 |
| NC_000002.10:g.234191754_234191755insCC | NCBI36 |
| NG_002601.2:g.33626_33627insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.662_663insCC MANE Select | ENSP00000362549.4:p.Gln221HisfsTer9 | |
| ENST00000373450.4:c.662_663insCC | ENSP00000362549.4:p.Gln221HisfsTer9 | |
| NM_019076.4:c.662_663insCC | NP_061949.3:p.Gln221HisfsTer9 | |
| NM_019076.5:c.662_663insCC MANE Select | NP_061949.3:p.Gln221HisfsTer9 |