Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965817dup , CM000670.2:g.37965817dup | GRCh38 |
| NC_000008.10:g.37823335dup , CM000670.1:g.37823335dup | GRCh37 |
| NC_000008.9:g.37942492dup | NCBI36 |
| NG_011936.1:g.5850dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.653dup MANE Select | NP_000016.1:p.Val219ArgfsTer? |
| ENST00000345060.5:c.653dup MANE Select | ENSP00000343782.3:p.Val219ArgfsTer? |
| NM_000025.2:c.653dup | NP_000016.1:p.Val219ArgfsTer? |
| ENST00000345060.4:c.653dup | ENSP00000343782.3:p.Val219ArgfsTer? |
| ENST00000520341.2:n.781dup | |
| ENST00000614635.1:c.653dup | ENSP00000480325.1:p.Val219ArgfsTer? |
| ENST00000647937.1:c.137dup | ENSP00000497740.1:p.Val47ArgfsTer? |