Linked Data
ClinVar Variation Id:
92421
dbSNP Id:
rs398123150
MyVariant Identifiers:
chr15:g.42682204_42682213dup (hg19)
chr15:g.42682204_42682213dupGTTGATTGCA (hg19)
chr15:g.42390006_42390015dupGTTGATTGCA (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42390006_42390015dup , CM000677.2:g.42390006_42390015dup | GRCh38 |
| NC_000015.9:g.42682204_42682213dup , CM000677.1:g.42682204_42682213dup | GRCh37 |
| NC_000015.8:g.40469496_40469505dup | NCBI36 |
| NG_008660.1:g.46904_46913dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.801+910_801+919dup | ENSP00000183936.4:n.801+910_801+919dup | |
| ENST00000357568.8:c.855_864dup | ENSP00000350181.3:p.Arg289ValfsTer11 | |
| ENST00000397163.8:c.855_864dup MANE Select | ENSP00000380349.3:p.Arg289ValfsTer11 | |
| ENST00000466369.5:n.1364_1373dup | ||
| ENST00000483208.5:n.1086_1095dup | ||
| ENST00000495723.1:n.1086_1095dup | ||
| ENST00000549793.5:n.1086_1095dup | ||
| ENST00000638141.2:n.816+910_816+919dup | ||
| ENST00000673705.1:c.70+5454_70+5463dup | ENSP00000501021.1:n.70+5454_70+5463dup | |
| ENST00000318023.11:c.801+910_801+919dup | ENSP00000326281.8:n.801+910_801+919dup | |
| ENST00000349748.7:c.801+910_801+919dup | ENSP00000183936.4:n.801+910_801+919dup | |
| ENST00000357568.7:c.855_864dup | ENSP00000350181.3:p.Arg289ValfsTer11 | |
| ENST00000397163.7:c.855_864dup | ENSP00000380349.3:p.Arg289ValfsTer11 | |
| NM_000070.2:c.855_864dup | NP_000061.1:p.Arg289ValfsTer11 | |
| NM_024344.1:c.855_864dup | NP_077320.1:p.Arg289ValfsTer11 | |
| NM_173087.1:c.801+910_801+919dup | NP_775110.1:n.801+910_801+919dup | |
| NM_000070.3:c.855_864dup MANE Select | NP_000061.1:p.Arg289ValfsTer11 | |
| NM_024344.2:c.855_864dup | NP_077320.1:p.Arg289ValfsTer11 | |
| NM_173087.2:c.801+910_801+919dup | NP_775110.1:n.801+910_801+919dup |