Linked Data
ClinVar Variation Id:
10249
ClinVar RCV Id:
RCV000010962
dbSNP Id:
rs387906447
gnomAD v4:
X-154930844-A-AT
PubMed:
PMID:8281136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154930850dup , CM000685.2:g.154930850dup | GRCh38 |
| NC_000023.10:g.154159125dup , CM000685.1:g.154159125dup | GRCh37 |
| NC_000023.9:g.153812319dup | NCBI36 |
| NG_011403.1:g.96879dup | |
| NG_011403.2:g.96879dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.2945dup MANE Select | ENSP00000353393.4:p.Asn982LysfsTer9 | |
| ENST00000647125.1:c.*2611dup | ENSP00000496062.1:n.*2611dup | |
| ENST00000360256.8:c.2945dup | ENSP00000353393.4:p.Asn982LysfsTer9 | |
| NM_000132.3:c.2945dup | NP_000123.1:p.Asn982LysfsTer9 | |
| XM_011531126.1:c.2840dup | XP_011529428.1:p.Asn947LysfsTer9 | |
| NM_000132.4:c.2945dup MANE Select | NP_000123.1:p.Asn982LysfsTer9 |