Linked Data
ClinVar Variation Id:
370829
ClinVar RCV Id:
RCV000409196
dbSNP Id:
rs1057516800
MyVariant Identifiers:
chr11:g.68529033_68529034insTTTT (hg19)
chr11:g.68761565_68761566insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68761566_68761567insTTTT , CM000673.2:g.68761566_68761567insTTTT | GRCh38 |
| NC_000011.9:g.68529034_68529035insTTTT , CM000673.1:g.68529034_68529035insTTTT | GRCh37 |
| NC_000011.8:g.68285610_68285611insTTTT | NCBI36 |
| NG_011801.1:g.85366_85367insAAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.1997_1998insAAAA MANE Select | ENSP00000265641.4:p.Tyr666Ter | |
| ENST00000265641.9:c.1997_1998insAAAA | ENSP00000265641.4:p.Tyr666Ter | |
| ENST00000376618.6:c.1997_1998insAAAA | ENSP00000365803.2:p.Tyr666Ter | |
| ENST00000539743.5:c.1997_1998insAAAA | ENSP00000446108.1:p.Tyr666Ter | |
| ENST00000540367.5:c.1997_1998insAAAA | ENSP00000439084.1:p.Tyr666Ter | |
| NM_001031847.2:c.1997_1998insAAAA | NP_001027017.1:p.Tyr666Ter | |
| NM_001876.3:c.1997_1998insAAAA | NP_001867.2:p.Tyr666Ter | |
| XM_005273762.1:c.2093_2094insAAAA | XP_005273819.1:p.Tyr698Ter | |
| XM_005273763.1:c.2093_2094insAAAA | XP_005273820.1:p.Tyr698Ter | |
| XM_005273762.3:c.2093_2094insAAAA | XP_005273819.1:p.Tyr698Ter | |
| XM_017017220.1:c.1997_1998insAAAA | XP_016872709.1:p.Tyr666Ter | |
| NM_001876.4:c.1997_1998insAAAA MANE Select | NP_001867.2:p.Tyr666Ter | |
| NM_001031847.3:c.1997_1998insAAAA | NP_001027017.1:p.Tyr666Ter |