Linked Data
dbSNP Id:
rs34553414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175203dup , CM000679.2:g.70175203dup | GRCh38 |
| NC_000017.10:g.68171344dup , CM000679.1:g.68171344dup | GRCh37 |
| NC_000017.9:g.65682939dup | NCBI36 |
| NG_008798.1:g.10669dup , LRG_328:g.10669dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.164dup MANE Select | ENSP00000243457.2:p.Asn55LysfsTer9 | |
| ENST00000243457.3:c.164dup | ENSP00000243457.2:p.Asn55LysfsTer9 | |
| ENST00000535240.1:c.164dup | ENSP00000441848.1:p.Asn55LysfsTer9 | |
| NM_000891.2:c.164dup , LRG_328t1:c.164dup | NP_000882.1:p.Asn55LysfsTer9 | |
| XM_011524779.1:c.164dup | XP_011523081.1:p.Asn55LysfsTer9 | |
| NM_000891.3:c.164dup MANE Select | NP_000882.1:p.Asn55LysfsTer9 |