Linked Data
ClinVar Variation Id:
3954
ClinVar RCV Id:
RCV000004160
dbSNP Id:
rs606231141
MyVariant Identifiers:
chr11:g.57381908_57381909insTGT (hg19)
chr11:g.57614435_57614436insTGT (hg38)
PubMed:
PMID:8396558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614435_57614436insTGT , CM000673.2:g.57614435_57614436insTGT | GRCh38 |
| NC_000011.9:g.57381908_57381909insTGT , CM000673.1:g.57381908_57381909insTGT | GRCh37 |
| NC_000011.8:g.57138484_57138485insTGT | NCBI36 |
| NG_009625.1:g.21882_21883insTGT , LRG_105:g.21882_21883insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1357_1358insTGT MANE Select | ENSP00000278407.4:p.Gly453delinsValTrp | |
| ENST00000528996.2:c.*254_*255insTGT | ENSP00000431226.2:n.*254_*255insTGT | |
| ENST00000531605.2:c.*1133_*1134insTGT | ENSP00000503752.1:n.*1133_*1134insTGT | |
| ENST00000619430.2:c.1153_1154insTGT | ENSP00000478572.2:p.Gly385delinsValTrp | |
| ENST00000676670.1:c.1357_1358insTGT | ENSP00000504807.1:p.Gly453delinsValTrp | |
| ENST00000676741.1:n.2439_2440insTGT | ||
| ENST00000677624.1:c.*777_*778insTGT | ENSP00000503979.1:n.*777_*778insTGT | |
| ENST00000677625.1:c.1303_1304insTGT | ENSP00000502857.1:p.Gly435delinsValTrp | |
| ENST00000677856.1:n.1610_1611insTGT | ||
| ENST00000677915.1:c.*254_*255insTGT | ENSP00000503118.1:n.*254_*255insTGT | |
| ENST00000678533.1:c.*911_*912insTGT | ENSP00000503873.1:n.*911_*912insTGT | |
| ENST00000678592.1:c.*297_*298insTGT | ENSP00000504424.1:n.*297_*298insTGT | |
| ENST00000278407.8:c.1357_1358insTGT | ENSP00000278407.4:p.Gly453delinsValTrp | |
| ENST00000340687.10:c.1246_1247insTGT | ENSP00000341861.6:p.Gly416delinsValTrp | |
| ENST00000378323.8:c.1372_1373insTGT | ENSP00000367574.4:p.Gly458delinsValTrp | |
| ENST00000378324.6:c.1201_1202insTGT | ENSP00000367575.2:p.Gly401delinsValTrp | |
| ENST00000403558.1:c.1486_1487insTGT | ENSP00000384420.1:p.Gly496delinsValTrp | |
| ENST00000528996.1:c.558_559insTGT | ENSP00000431226.1:n.558_559insTGT | |
| ENST00000530113.1:n.814_815insTGT | ||
| ENST00000531133.5:c.858_859insTGT | ENSP00000435431.1:n.858_859insTGT | |
| ENST00000531797.5:c.*382_*383insTGT | ENSP00000432554.1:n.*382_*383insTGT | |
| ENST00000619430.1:c.488_489insTGT | ENSP00000478572.1:n.488_489insTGT | |
| NM_000062.2:c.1357_1358insTGT , LRG_105t1:c.1357_1358insTGT | NP_000053.2:p.Gly453delinsValTrp | |
| NM_001032295.1:c.1357_1358insTGT | NP_001027466.1:p.Gly453delinsValTrp | |
| NM_000062.3:c.1357_1358insTGT MANE Select | NP_000053.2:p.Gly453delinsValTrp | |
| NM_001032295.2:c.1357_1358insTGT | NP_001027466.1:p.Gly453delinsValTrp |