Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675480_52675539dup , CM000674.2:g.52675480_52675539dup | GRCh38 |
| NC_000012.11:g.53069264_53069323dup , CM000674.1:g.53069264_53069323dup | GRCh37 |
| NC_000012.10:g.51355531_51355590dup | NCBI36 |
| NG_008364.1:g.9889_9948dup | |
| NG_008364.2:g.9889_9948dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1609_1668dup MANE Select | ENSP00000252244.3:p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlyG... | |
| NM_006121.3:c.1609_1668dup | NP_006112.3:p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlyGlyGlyG... | |
| NM_006121.4:c.1609_1668dup MANE Select | NP_006112.3:p.Gly556_Ser557insGlySerTyrGlySerGlyGlyGlyGlyGlyG... |