ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768004_28768010dup , CM000676.2:g.28768004_28768010dup | GRCh38 |
| NC_000014.8:g.29237210_29237216dup , CM000676.1:g.29237210_29237216dup | GRCh37 |
| NC_000014.7:g.28306961_28306967dup | NCBI36 |
| NG_009367.1:g.5924_5930dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.725_731dup | ENSP00000516406.1:p.His245AlafsTer? | |
| ENST00000313071.7:c.725_731dup MANE Select | ENSP00000339004.3:p.His245AlafsTer? | |
| ENST00000313071.6:c.725_731dup | ENSP00000339004.3:p.His245AlafsTer? | |
| NM_005249.4:c.725_731dup | NP_005240.3:p.His245AlafsTer? | |
| NM_005249.5:c.725_731dup MANE Select | NP_005240.3:p.His245AlafsTer? |