UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
54189
ClinVar RCV Id:
RCV002381346
dbSNP Id:
rs397508852
MyVariant Identifiers:
chr17:g.41246253_41246255delinsTC (hg19)
chr17:g.43094236_43094238delinsTC (hg38)
PubMed:
PMID:22798144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094236_43094238delinsTC , CM000679.2:g.43094236_43094238delinsTC | GRCh38 |
| NC_000017.10:g.41246253_41246255delinsTC , CM000679.1:g.41246253_41246255delinsTC | GRCh37 |
| NC_000017.9:g.38499779_38499781delinsTC | NCBI36 |
| NG_005905.2:g.123746_123748delinsGA , LRG_292:g.123746_123748delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1357_1359delinsGA | ||
| ENST00000461574.2:c.1293_1295delinsGA | ENSP00000417241.2:p.Leu432ArgfsTer9 | |
| ENST00000470026.6:c.1293_1295delinsGA | ENSP00000419274.2:p.Leu432ArgfsTer9 | |
| ENST00000473961.6:c.1167_1169delinsGA | ENSP00000420201.2:p.Leu390ArgfsTer9 | |
| ENST00000476777.6:c.1290_1292delinsGA | ENSP00000417554.2:p.Leu431ArgfsTer9 | |
| ENST00000477152.6:c.1215_1217delinsGA | ENSP00000419988.2:p.Leu406ArgfsTer9 | |
| ENST00000478531.6:c.784+506_784+508delinsGA | ENSP00000420412.2:n.784+506_784+508delins... | |
| ENST00000489037.2:c.1215_1217delinsGA | ENSP00000420781.2:p.Leu406ArgfsTer9 | |
| ENST00000493919.6:c.646+506_646+508delinsGA | ENSP00000418819.2:n.646+506_646+508delins... | |
| ENST00000494123.6:c.1293_1295delinsGA | ENSP00000419103.2:p.Leu432ArgfsTer9 | |
| ENST00000497488.2:c.405_407delinsGA | ENSP00000418986.2:p.Leu136ArgfsTer9 | |
| ENST00000618469.2:c.1293_1295delinsGA | ENSP00000478114.2:p.Leu432ArgfsTer9 | |
| ENST00000634433.2:c.1170_1172delinsGA | ENSP00000489431.2:p.Leu391ArgfsTer9 | |
| ENST00000644379.2:c.1293_1295delinsGA | ENSP00000496570.2:p.Leu432ArgfsTer9 | |
| ENST00000644555.2:c.646+506_646+508delinsGA | ENSP00000494614.2:n.646+506_646+508delins... | |
| ENST00000652672.2:c.1152_1154delinsGA | ENSP00000498906.2:p.Leu385ArgfsTer9 | |
| ENST00000484087.6:c.664+506_664+508delinsGA | ENSP00000419481.2:n.664+506_664+508delins... | |
| ENST00000700182.1:c.706+506_706+508delinsGA | ENSP00000514849.1:n.706+506_706+508delins... | |
| ENST00000700183.1:c.*1301_*1303delinsGA | ENSP00000514850.1:n.*1301_*1303delinsGA | |
| ENST00000357654.9:c.1293_1295delinsGA MANE Select | ENSP00000350283.3:p.Leu432ArgfsTer9 | |
| ENST00000471181.7:c.1293_1295delinsGA | ENSP00000418960.2:p.Leu432ArgfsTer9 | |
| ENST00000652672.1:c.1152_1154delinsGA | ENSP00000498906.1:p.Leu385ArgfsTer9 | |
| ENST00000352993.7:c.670+1608_670+1610delinsGA | ENSP00000312236.5:n.670+1608_670+1610deli... | |
| ENST00000354071.7:c.1293_1295delinsGA | ENSP00000326002.7:p.Leu432ArgfsTer9 | |
| ENST00000357654.7:c.1293_1295delinsGA | ENSP00000350283.3:p.Leu432ArgfsTer9 | |
| ENST00000412061.3:c.644_646delinsGA | ||
| ENST00000461221.5:c.*1076_*1078delinsGA | ENSP00000418548.1:n.*1076_*1078delinsGA | |
| ENST00000468300.5:c.787+506_787+508delinsGA | ENSP00000417148.1:n.787+506_787+508delins... | |
| ENST00000470026.5:c.1293_1295delinsGA | ENSP00000419274.1:p.Leu432ArgfsTer9 | |
| ENST00000471181.6:c.1293_1295delinsGA | ENSP00000418960.2:p.Leu432ArgfsTer9 | |
| ENST00000473961.5:c.890_892delinsGA | ||
| ENST00000477152.5:c.1215_1217delinsGA | ENSP00000419988.1:p.Leu406ArgfsTer9 | |
| ENST00000478531.5:c.784+506_784+508delinsGA | ENSP00000420412.1:n.784+506_784+508delins... | |
| ENST00000484087.5:c.409+506_409+508delinsGA | ENSP00000419481.1:n.409+506_409+508delins... | |
| ENST00000487825.5:c.412+506_412+508delinsGA | ENSP00000418212.1:n.412+506_412+508delins... | |
| ENST00000491747.6:c.787+506_787+508delinsGA | ENSP00000420705.2:n.787+506_787+508delins... | |
| ENST00000492859.5:c.*1229_*1231delinsGA | ENSP00000420253.1:n.*1229_*1231delinsGA | |
| ENST00000493795.5:c.1152_1154delinsGA | ENSP00000418775.1:p.Leu385ArgfsTer9 | |
| ENST00000493919.5:c.646+506_646+508delinsGA | ENSP00000418819.1:n.646+506_646+508delins... | |
| ENST00000494123.5:c.1293_1295delinsGA | ENSP00000419103.1:p.Leu432ArgfsTer9 | |
| ENST00000497488.1:c.405_407delinsGA | ENSP00000418986.1:p.Leu136ArgfsTer9 | |
| ENST00000586385.5:c.5-30287_5-30285delinsGA | ENSP00000465818.1:n.5-30287_5-30285delins... | |
| ENST00000591534.5:c.-43-19717_-43-19715delinsGA | ENSP00000467329.1:n.-43-19717_-43-19715de... | |
| ENST00000591849.5:c.-99+31033_-99+31035delinsGA | ENSP00000465347.1:n.-99+31033_-99+31035de... | |
| ENST00000634433.1:c.1170_1172delinsGA | ENSP00000489431.1:p.Leu391ArgfsTer9 | |
| NM_007294.3:c.1293_1295delinsGA , LRG_292t1:c.1293_1295delinsGA | NP_009225.1:p.Leu432ArgfsTer9 | |
| NM_007297.3:c.1152_1154delinsGA | NP_009228.2:p.Leu385ArgfsTer9 | |
| NM_007298.3:c.787+506_787+508delinsGA | NP_009229.2:n.787+506_787+508delinsGA | |
| NM_007299.3:c.787+506_787+508delinsGA | NP_009230.2:n.787+506_787+508delinsGA | |
| NM_007300.3:c.1293_1295delinsGA | NP_009231.2:p.Leu432ArgfsTer9 | |
| NR_027676.1:n.1429_1431delinsGA | ||
| NM_007294.4:c.1293_1295delinsGA MANE Select | NP_009225.1:p.Leu432ArgfsTer9 | |
| NM_007297.4:c.1152_1154delinsGA | NP_009228.2:p.Leu385ArgfsTer9 | |
| NM_007299.4:c.787+506_787+508delinsGA | NP_009230.2:n.787+506_787+508delinsGA | |
| NM_007300.4:c.1293_1295delinsGA | NP_009231.2:p.Leu432ArgfsTer9 | |
| NR_027676.2:n.1470_1472delinsGA |