Linked Data
ClinVar Variation Id:
10889
ClinVar RCV Id:
RCV000011636
dbSNP Id:
rs606231191
PubMed:
PMID:2828359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359554_19359589dup , CM000685.2:g.19359554_19359589dup | GRCh38 |
| NC_000023.10:g.19377672_19377707dup , CM000685.1:g.19377672_19377707dup | GRCh37 |
| NC_000023.9:g.19287593_19287628dup | NCBI36 |
| NG_016781.1:g.20662_20697dup | |
| NG_021184.1:g.160673_160708dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1095_1130dup | ENSP00000348062.6:p.Ser377_Ser378insProPr... | |
| ENST00000379805.4:c.*766_*801dup | ENSP00000369133.3:n.*766_*801dup | |
| ENST00000417819.6:c.1158_1193dup | ENSP00000404616.2:p.Ser398_Ser399insProPr... | |
| ENST00000423505.6:c.1188_1223dup | ENSP00000406473.2:p.Ser408_Ser409insProPr... | |
| ENST00000481733.2:n.869_904dup | ||
| ENST00000696704.1:c.*406_*441dup | ENSP00000512823.1:n.*406_*441dup | |
| ENST00000696705.1:c.*529_*564dup | ENSP00000512824.1:n.*529_*564dup | |
| ENST00000422285.7:c.1074_1109dup MANE Select | ENSP00000394382.2:p.Ser370_Ser371insProPr... | |
| ENST00000379804.1:c.231_266dup | ENSP00000369132.1:p.Ser89_Ser90insProProL... | |
| ENST00000379806.9:c.1188_1223dup | ENSP00000369134.5:p.Ser408_Ser409insProPr... | |
| ENST00000422285.6:c.1074_1109dup | ENSP00000394382.2:p.Ser370_Ser371insProPr... | |
| ENST00000478795.1:n.513_548dup | ||
| ENST00000540249.5:c.981_1016dup | ENSP00000440761.1:p.Ser339_Ser340insProPr... | |
| ENST00000545074.5:c.1095_1130dup | ENSP00000438550.1:p.Ser377_Ser378insProPr... | |
| NM_000284.3:c.1074_1109dup | NP_000275.1:p.Ser370_Ser371insProProLeuGl... | |
| NM_001173454.1:c.1188_1223dup | NP_001166925.1:p.Ser408_Ser409insProProLe... | |
| NM_001173455.1:c.1095_1130dup | NP_001166926.1:p.Ser377_Ser378insProProLe... | |
| NM_001173456.1:c.981_1016dup | NP_001166927.1:p.Ser339_Ser340insProProLe... | |
| XM_011545531.1:c.1209_1244dup | XP_011543833.1:p.Ser415_Ser416insProProLe... | |
| XM_011545532.1:c.1116_1151dup | XP_011543834.1:p.Ser384_Ser385insProProLe... | |
| XM_017029574.2:c.1095_1130dup | XP_016885063.1:p.Ser377_Ser378insProProLe... | |
| NM_000284.4:c.1074_1109dup MANE Select | NP_000275.1:p.Ser370_Ser371insProProLeuGl... | |
| NM_001173454.2:c.1188_1223dup | NP_001166925.1:p.Ser408_Ser409insProProLe... | |
| NM_001173455.2:c.1095_1130dup | NP_001166926.1:p.Ser377_Ser378insProProLe... | |
| NM_001173456.2:c.981_1016dup | NP_001166927.1:p.Ser339_Ser340insProProLe... |