Linked Data
ClinVar Variation Id:
30724
dbSNP Id:
rs786205116
MyVariant Identifiers:
chr1:g.216019331dupA (hg19)
chr1:g.216019330_216019331insA (hg19)
chr1:g.215845989dupA (hg38)
chr1:g.215845988_215845989insA (hg38)
PubMed:
PMID:22009552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215845994dup , CM000663.2:g.215845994dup | GRCh38 |
| NC_000001.10:g.216019336dup , CM000663.1:g.216019336dup | GRCh37 |
| NC_000001.9:g.214085959dup | NCBI36 |
| NG_009497.1:g.582408dup | |
| NG_009497.2:g.582460dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8890dup MANE Select | ENSP00000305941.3:p.Trp2964LeufsTer? | |
| ENST00000674083.1:c.8890dup | ENSP00000501296.1:p.Trp2964LeufsTer? | |
| ENST00000307340.7:c.8890dup | ENSP00000305941.3:p.Trp2964LeufsTer? | |
| NM_206933.2:c.8890dup | NP_996816.2:p.Trp2964LeufsTer? | |
| NM_206933.3:c.8890dup | NP_996816.2:p.Trp2964LeufsTer? | |
| NM_206933.4:c.8890dup MANE Select | NP_996816.3:p.Trp2964LeufsTer? |