Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328475dup , CM000664.2:g.29328475dup | GRCh38 |
| NC_000002.11:g.29551341dup , CM000664.1:g.29551341dup | GRCh37 |
| NC_000002.10:g.29404845dup | NCBI36 |
| NG_009445.1:g.598095dup , LRG_488:g.598095dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1292dup MANE Select | ENSP00000373700.3:p.Gly432ArgfsTer25 | |
| ENST00000389048.7:c.1292dup | ENSP00000373700.3:p.Gly432ArgfsTer25 | |
| ENST00000618119.4:c.161dup | ENSP00000482733.1:p.Gly55ArgfsTer25 | |
| NM_004304.4:c.1292dup | NP_004295.2:p.Gly432ArgfsTer25 | |
| XR_939920.1:n.783dup | ||
| XR_939921.1:n.680+5947dup | ||
| XR_001738688.2:n.2222dup | ||
| XR_939920.2:n.673dup | ||
| XR_939921.2:n.576+5947dup | ||
| NM_004304.5:c.1292dup MANE Select | NP_004295.2:p.Gly432ArgfsTer25 |