Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157241549dup , CM000667.2:g.157241549dup | GRCh38 |
| NC_000005.9:g.156668559dup , CM000667.1:g.156668559dup | GRCh37 |
| NC_000005.8:g.156601137dup | NCBI36 |
| NG_016276.1:g.65653dup , LRG_189:g.65653dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.852-97dup | ENSP00000513001.1:n.852-97dup | |
| ENST00000422843.8:c.986-97dup MANE Select | ENSP00000398655.4:n.986-97dup | |
| ENST00000422843.7:c.986-97dup | ENSP00000398655.3:n.986-97dup | |
| ENST00000519402.5:n.2474dup | ||
| ENST00000520173.1:n.104-97dup | ||
| NM_005546.3:c.986-97dup , LRG_189t1:c.986-97dup | NP_005537.3:n.986-97dup | |
| XM_017009443.1:c.611-97dup | XP_016864932.1:n.611-97dup | |
| NM_005546.4:c.986-97dup MANE Select | NP_005537.3:n.986-97dup |