Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965571dup , CM000670.2:g.37965571dup | GRCh38 |
| NC_000008.10:g.37823089dup , CM000670.1:g.37823089dup | GRCh37 |
| NC_000008.9:g.37942246dup | NCBI36 |
| NG_011936.1:g.6097dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.900dup MANE Select | ENSP00000343782.3:p.Phe301LeufsTer? | |
| ENST00000520341.2:n.1028dup | ||
| ENST00000647937.1:c.384dup | ENSP00000497740.1:p.Phe129LeufsTer? | |
| ENST00000345060.4:c.900dup | ENSP00000343782.3:p.Phe301LeufsTer? | |
| ENST00000520341.1:n.175dup | ||
| ENST00000614635.1:c.900dup | ENSP00000480325.1:p.Phe301LeufsTer? | |
| NM_000025.2:c.900dup | NP_000016.1:p.Phe301LeufsTer? | |
| NM_000025.3:c.900dup MANE Select | NP_000016.1:p.Phe301LeufsTer? |