Linked Data
ClinVar Variation Id:
17665
ClinVar RCV Id:
RCV000019234
RCV000047372
RCV000131965
RCV000159899
RCV000238898
RCV001353523
RCV001798011
dbSNP Id:
rs80359874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094318_43094357del , CM000679.2:g.43094318_43094357del | GRCh38 |
| NC_000017.10:g.41246335_41246374del , CM000679.1:g.41246335_41246374del | GRCh37 |
| NC_000017.9:g.38499861_38499900del | NCBI36 |
| NG_005905.2:g.123628_123667del , LRG_292:g.123628_123667del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1239_1278del | ||
| ENST00000461574.2:c.1175_1214del | ENSP00000417241.2:p.Leu392GlnfsTer5 | |
| ENST00000470026.6:c.1175_1214del | ENSP00000419274.2:p.Leu392GlnfsTer5 | |
| ENST00000473961.6:c.1049_1088del | ENSP00000420201.2:p.Leu350GlnfsTer5 | |
| ENST00000476777.6:c.1172_1211del | ENSP00000417554.2:p.Leu391GlnfsTer5 | |
| ENST00000477152.6:c.1097_1136del | ENSP00000419988.2:p.Leu366GlnfsTer5 | |
| ENST00000478531.6:c.784+388_784+427del | ENSP00000420412.2:n.784+388_784+427del | |
| ENST00000489037.2:c.1097_1136del | ENSP00000420781.2:p.Leu366GlnfsTer5 | |
| ENST00000493919.6:c.646+388_646+427del | ENSP00000418819.2:n.646+388_646+427del | |
| ENST00000494123.6:c.1175_1214del | ENSP00000419103.2:p.Leu392GlnfsTer5 | |
| ENST00000497488.2:c.287_326del | ENSP00000418986.2:p.Leu96GlnfsTer5 | |
| ENST00000618469.2:c.1175_1214del | ENSP00000478114.2:p.Leu392GlnfsTer5 | |
| ENST00000634433.2:c.1052_1091del | ENSP00000489431.2:p.Leu351GlnfsTer5 | |
| ENST00000644379.2:c.1175_1214del | ENSP00000496570.2:p.Leu392GlnfsTer5 | |
| ENST00000644555.2:c.646+388_646+427del | ENSP00000494614.2:n.646+388_646+427del | |
| ENST00000652672.2:c.1034_1073del | ENSP00000498906.2:p.Leu345GlnfsTer5 | |
| ENST00000484087.6:c.664+388_664+427del | ENSP00000419481.2:n.664+388_664+427del | |
| ENST00000700182.1:c.706+388_706+427del | ENSP00000514849.1:n.706+388_706+427del | |
| ENST00000700183.1:c.*1183_*1222del | ENSP00000514850.1:n.*1183_*1222del | |
| ENST00000357654.9:c.1175_1214del MANE Select | ENSP00000350283.3:p.Leu392GlnfsTer5 | |
| ENST00000471181.7:c.1175_1214del | ENSP00000418960.2:p.Leu392GlnfsTer5 | |
| ENST00000652672.1:c.1034_1073del | ENSP00000498906.1:p.Leu345GlnfsTer5 | |
| ENST00000352993.7:c.670+1490_670+1529del | ENSP00000312236.5:n.670+1490_670+1529del | |
| ENST00000354071.7:c.1175_1214del | ENSP00000326002.7:p.Leu392GlnfsTer5 | |
| ENST00000357654.7:c.1175_1214del | ENSP00000350283.3:p.Leu392GlnfsTer5 | |
| ENST00000412061.3:c.526_565del | ||
| ENST00000461221.5:c.*958_*997del | ENSP00000418548.1:n.*958_*997del | |
| ENST00000468300.5:c.787+388_787+427del | ENSP00000417148.1:n.787+388_787+427del | |
| ENST00000470026.5:c.1175_1214del | ENSP00000419274.1:p.Leu392GlnfsTer5 | |
| ENST00000471181.6:c.1175_1214del | ENSP00000418960.2:p.Leu392GlnfsTer5 | |
| ENST00000473961.5:c.772_811del | ||
| ENST00000477152.5:c.1097_1136del | ENSP00000419988.1:p.Leu366GlnfsTer5 | |
| ENST00000478531.5:c.784+388_784+427del | ENSP00000420412.1:n.784+388_784+427del | |
| ENST00000484087.5:c.409+388_409+427del | ENSP00000419481.1:n.409+388_409+427del | |
| ENST00000487825.5:c.412+388_412+427del | ENSP00000418212.1:n.412+388_412+427del | |
| ENST00000491747.6:c.787+388_787+427del | ENSP00000420705.2:n.787+388_787+427del | |
| ENST00000492859.5:c.*1111_*1150del | ENSP00000420253.1:n.*1111_*1150del | |
| ENST00000493795.5:c.1034_1073del | ENSP00000418775.1:p.Leu345GlnfsTer5 | |
| ENST00000493919.5:c.646+388_646+427del | ENSP00000418819.1:n.646+388_646+427del | |
| ENST00000494123.5:c.1175_1214del | ENSP00000419103.1:p.Leu392GlnfsTer5 | |
| ENST00000497488.1:c.287_326del | ENSP00000418986.1:p.Leu96GlnfsTer5 | |
| ENST00000586385.5:c.5-30405_5-30366del | ENSP00000465818.1:n.5-30405_5-30366del | |
| ENST00000591534.5:c.-43-19835_-43-19796del | ENSP00000467329.1:n.-43-19835_-43-19796de... | |
| ENST00000591849.5:c.-99+30915_-99+30954del | ENSP00000465347.1:n.-99+30915_-99+30954de... | |
| ENST00000634433.1:c.1052_1091del | ENSP00000489431.1:p.Leu351GlnfsTer5 | |
| NM_007294.3:c.1175_1214del , LRG_292t1:c.1175_1214del | NP_009225.1:p.Leu392GlnfsTer5 | |
| NM_007297.3:c.1034_1073del | NP_009228.2:p.Leu345GlnfsTer5 | |
| NM_007298.3:c.787+388_787+427del | NP_009229.2:n.787+388_787+427del | |
| NM_007299.3:c.787+388_787+427del | NP_009230.2:n.787+388_787+427del | |
| NM_007300.3:c.1175_1214del | NP_009231.2:p.Leu392GlnfsTer5 | |
| NR_027676.1:n.1311_1350del | ||
| NM_007294.4:c.1175_1214del MANE Select | NP_009225.1:p.Leu392GlnfsTer5 | |
| NM_007297.4:c.1034_1073del | NP_009228.2:p.Leu345GlnfsTer5 | |
| NM_007299.4:c.787+388_787+427del | NP_009230.2:n.787+388_787+427del | |
| NM_007300.4:c.1175_1214del | NP_009231.2:p.Leu392GlnfsTer5 | |
| NR_027676.2:n.1352_1391del |