Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999333dup , CM000664.2:g.188999333dup | GRCh38 |
| NC_000002.11:g.189864059dup , CM000664.1:g.189864059dup | GRCh37 |
| NC_000002.10:g.189572304dup | NCBI36 |
| NG_007404.1:g.29961dup , LRG_3:g.29961dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1972dup | ENSP00000415346.2:p.Ala658GlyfsTer5 | |
| ENST00000304636.9:c.2071dup MANE Select | ENSP00000304408.4:p.Ala691GlyfsTer5 | |
| ENST00000304636.7:c.2071dup | ENSP00000304408.3:p.Ala691GlyfsTer5 | |
| ENST00000317840.9:c.2071dup | ENSP00000315243.6:p.Ala691GlyfsTer5 | |
| NM_000090.3:c.2071dup , LRG_3t1:c.2071dup | NP_000081.1:p.Ala691GlyfsTer5 | |
| NM_000090.4:c.2071dup MANE Select | NP_000081.2:p.Ala691GlyfsTer5 |