Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308857_30308858dup , CM000685.2:g.30308857_30308858dup | GRCh38 |
| NC_000023.10:g.30326974_30326975dup , CM000685.1:g.30326974_30326975dup | GRCh37 |
| NC_000023.9:g.30236895_30236896dup | NCBI36 |
| NG_009814.1:g.5524_5525dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.509_510dup MANE Select | ENSP00000368253.4:p.Trp171ArgfsTer? | |
| ENST00000378970.4:c.509_510dup | ENSP00000368253.4:p.Trp171ArgfsTer? | |
| NM_000475.4:c.509_510dup | NP_000466.2:p.Trp171ArgfsTer? | |
| NM_000475.5:c.509_510dup MANE Select | NP_000466.2:p.Trp171ArgfsTer? |