Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709719dup , CM000681.2:g.6709719dup | GRCh38 |
| NC_000019.9:g.6709730dup , CM000681.1:g.6709730dup | GRCh37 |
| NC_000019.8:g.6660730dup | NCBI36 |
| NG_009557.1:g.15933dup , LRG_27:g.15933dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1687dup | ENSP00000512083.1:p.Val563GlyfsTer4 | |
| ENST00000695654.1:c.934dup | ENSP00000512085.1:p.Val312GlyfsTer4 | |
| ENST00000695655.1:c.751dup | ENSP00000512086.1:n.751dup | |
| ENST00000695692.1:n.1174dup | ||
| ENST00000245907.11:c.1810dup MANE Select | ENSP00000245907.4:p.Val604GlyfsTer4 | |
| ENST00000245907.10:c.1810dup | ENSP00000245907.4:p.Val604GlyfsTer4 | |
| NM_000064.3:c.1810dup | NP_000055.2:p.Val604GlyfsTer4 | |
| NM_000064.4:c.1810dup MANE Select | NP_000055.2:p.Val604GlyfsTer4 |