Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570055_149570057delinsCCA , CM000664.2:g.149570055_149570057delinsCCA | GRCh38 |
| NC_000002.11:g.150426569_150426571delinsCCA , CM000664.1:g.150426569_150426571delinsCCA | GRCh37 |
| NC_000002.10:g.150134815_150134817delinsCCA | NCBI36 |
| NG_009189.1:g.22760_22762delinsTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.808_810delinsTGG MANE Select | ENSP00000301920.5:p.Trp270= | |
| ENST00000303319.9:c.808_810delinsTGG | ENSP00000301920.5:p.Trp270= | |
| ENST00000422782.2:c.910_912delinsTGG | ENSP00000408331.2:p.Trp304= | |
| ENST00000428879.5:c.808_810delinsTGG | ENSP00000389060.1:p.Trp270= | |
| NM_015702.2:c.808_810delinsTGG | NP_056517.1:p.Trp270= | |
| NM_015702.3:c.808_810delinsTGG MANE Select | NP_056517.1:p.Trp270= |