Linked Data
gnomAD v4:
11-5227013-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227014dup , CM000673.2:g.5227014dup | GRCh38 |
| NC_000011.9:g.5248244dup , CM000673.1:g.5248244dup | GRCh37 |
| NC_000011.8:g.5204820dup | NCBI36 |
| NG_000007.3:g.70602dup | |
| NG_059281.1:g.5058dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.8dup | ENSP00000494175.1:p.His3GlnfsTer5 | |
| ENST00000335295.4:c.8dup MANE Select | ENSP00000333994.3:p.His3GlnfsTer5 | |
| ENST00000380315.2:c.8dup | ENSP00000369671.2:p.His3GlnfsTer5 | |
| ENST00000485743.1:n.59dup | ||
| ENST00000633227.1:c.8dup | ENSP00000488004.1:p.His3GlnfsTer5 | |
| NM_000518.4:c.8dup | NP_000509.1:p.His3GlnfsTer5 | |
| NM_000518.5:c.8dup MANE Select | NP_000509.1:p.His3GlnfsTer5 |