Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981545_149981549delinsTTGAC , CM000667.2:g.149981545_149981549delinsTTGAC | GRCh38 |
| NC_000005.9:g.149361108_149361112delinsTTGAC , CM000667.1:g.149361108_149361112delinsTTGAC | GRCh37 |
| NC_000005.8:g.149341301_149341305delinsTTGAC | NCBI36 |
| NG_007147.2:g.22663_22667delinsTTGAC , LRG_684:g.22663_22667delinsTTGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1952_1956delinsTTGAC MANE Select | ENSP00000286298.4:p.Ile651= | |
| ENST00000286298.4:c.1952_1956delinsTTGAC | ENSP00000286298.4:p.Ile651= | |
| ENST00000503336.1:c.372+3194_372+3198delinsTTGAC | ENSP00000426053.1:n.372+3194_372+3198delinsTTGAC | |
| NM_000112.3:c.1952_1956delinsTTGAC , LRG_684t1:c.1952_1956delinsTTGAC | NP_000103.2:p.Ile651= | |
| XM_017009191.2:c.1952_1956delinsTTGAC | XP_016864680.1:p.Ile651= | |
| NM_000112.4:c.1952_1956delinsTTGAC MANE Select | NP_000103.2:p.Ile651= |