Linked Data
ClinVar Variation Id:
10293
ClinVar RCV Id:
RCV000011006
dbSNP Id:
rs387906459
PubMed:
PMID:1908096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904395dup , CM000685.2:g.154904395dup | GRCh38 |
| NC_000023.10:g.154132670dup , CM000685.1:g.154132670dup | GRCh37 |
| NC_000023.9:g.153785864dup | NCBI36 |
| NG_011403.1:g.123332dup | |
| NG_011403.2:g.123332dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5719dup MANE Select | ENSP00000353393.4:p.Ser1907LysfsTer6 | |
| ENST00000360256.8:c.5719dup | ENSP00000353393.4:p.Ser1907LysfsTer6 | |
| NM_000132.3:c.5719dup | NP_000123.1:p.Ser1907LysfsTer6 | |
| XM_011531126.1:c.5614dup | XP_011529428.1:p.Ser1872LysfsTer6 | |
| NM_000132.4:c.5719dup MANE Select | NP_000123.1:p.Ser1907LysfsTer6 |