ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23400741dup , CM000676.2:g.23400741dup | GRCh38 |
| NC_000014.8:g.23869950dup , CM000676.1:g.23869950dup | GRCh37 |
| NC_000014.7:g.22939790dup | NCBI36 |
| NG_023444.1:g.12537dup , LRG_389:g.12537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.1378dup MANE Select | ENSP00000386041.3:p.Val460GlyfsTer16 | |
| ENST00000557461.2:n.1445dup | ||
| ENST00000356287.3:c.1378dup | ENSP00000348634.3:p.Val460GlyfsTer16 | |
| ENST00000405093.7:c.1378dup | ENSP00000386041.3:p.Val460GlyfsTer16 | |
| ENST00000557461.1:n.1432dup | ||
| NM_002471.3:c.1378dup , LRG_389t1:c.1378dup | NP_002462.2:p.Val460GlyfsTer16 | |
| NM_002471.4:c.1378dup MANE Select | NP_002462.2:p.Val460GlyfsTer16 |