Linked Data
ClinVar Variation Id:
54122
dbSNP Id:
rs80359880
gnomAD v2:
17-41246455-TAGGATTCTCTG-T
gnomAD v4:
17-43094438-TAGGATTCTCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094441_43094451del , CM000679.2:g.43094441_43094451del | GRCh38 |
| NC_000017.10:g.41246458_41246468del , CM000679.1:g.41246458_41246468del | GRCh37 |
| NC_000017.9:g.38499984_38499994del | NCBI36 |
| NG_005905.2:g.123535_123545del , LRG_292:g.123535_123545del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1146_1156del | ||
| ENST00000461574.2:c.1082_1092del | ENSP00000417241.2:p.Ser361Ter | |
| ENST00000470026.6:c.1082_1092del | ENSP00000419274.2:p.Ser361Ter | |
| ENST00000473961.6:c.956_966del | ENSP00000420201.2:p.Ser319Ter | |
| ENST00000476777.6:c.1079_1089del | ENSP00000417554.2:p.Ser360Ter | |
| ENST00000477152.6:c.1004_1014del | ENSP00000419988.2:p.Ser335Ter | |
| ENST00000478531.6:c.784+295_784+305del | ENSP00000420412.2:n.784+295_784+305del | |
| ENST00000489037.2:c.1004_1014del | ENSP00000420781.2:p.Ser335Ter | |
| ENST00000493919.6:c.646+295_646+305del | ENSP00000418819.2:n.646+295_646+305del | |
| ENST00000494123.6:c.1082_1092del | ENSP00000419103.2:p.Ser361Ter | |
| ENST00000497488.2:c.194_204del | ENSP00000418986.2:p.Ser65Ter | |
| ENST00000618469.2:c.1082_1092del | ENSP00000478114.2:p.Ser361Ter | |
| ENST00000634433.2:c.959_969del | ENSP00000489431.2:p.Ser320Ter | |
| ENST00000644379.2:c.1082_1092del | ENSP00000496570.2:p.Ser361Ter | |
| ENST00000644555.2:c.646+295_646+305del | ENSP00000494614.2:n.646+295_646+305del | |
| ENST00000652672.2:c.941_951del | ENSP00000498906.2:p.Ser314Ter | |
| ENST00000484087.6:c.664+295_664+305del | ENSP00000419481.2:n.664+295_664+305del | |
| ENST00000700182.1:c.706+295_706+305del | ENSP00000514849.1:n.706+295_706+305del | |
| ENST00000700183.1:c.*1090_*1100del | ENSP00000514850.1:n.*1090_*1100del | |
| ENST00000357654.9:c.1082_1092del MANE Select | ENSP00000350283.3:p.Ser361Ter | |
| ENST00000471181.7:c.1082_1092del | ENSP00000418960.2:p.Ser361Ter | |
| ENST00000652672.1:c.941_951del | ENSP00000498906.1:p.Ser314Ter | |
| ENST00000352993.7:c.670+1397_670+1407del | ENSP00000312236.5:n.670+1397_670+1407del | |
| ENST00000354071.7:c.1082_1092del | ENSP00000326002.7:p.Ser361Ter | |
| ENST00000357654.7:c.1082_1092del | ENSP00000350283.3:p.Ser361Ter | |
| ENST00000412061.3:c.433_443del | ||
| ENST00000461221.5:c.*865_*875del | ENSP00000418548.1:n.*865_*875del | |
| ENST00000468300.5:c.787+295_787+305del | ENSP00000417148.1:n.787+295_787+305del | |
| ENST00000470026.5:c.1082_1092del | ENSP00000419274.1:p.Ser361Ter | |
| ENST00000471181.6:c.1082_1092del | ENSP00000418960.2:p.Ser361Ter | |
| ENST00000473961.5:c.679_689del | ||
| ENST00000477152.5:c.1004_1014del | ENSP00000419988.1:p.Ser335Ter | |
| ENST00000478531.5:c.784+295_784+305del | ENSP00000420412.1:n.784+295_784+305del | |
| ENST00000484087.5:c.409+295_409+305del | ENSP00000419481.1:n.409+295_409+305del | |
| ENST00000487825.5:c.412+295_412+305del | ENSP00000418212.1:n.412+295_412+305del | |
| ENST00000491747.6:c.787+295_787+305del | ENSP00000420705.2:n.787+295_787+305del | |
| ENST00000492859.5:c.*1018_*1028del | ENSP00000420253.1:n.*1018_*1028del | |
| ENST00000493795.5:c.941_951del | ENSP00000418775.1:p.Ser314Ter | |
| ENST00000493919.5:c.646+295_646+305del | ENSP00000418819.1:n.646+295_646+305del | |
| ENST00000494123.5:c.1082_1092del | ENSP00000419103.1:p.Ser361Ter | |
| ENST00000497488.1:c.194_204del | ENSP00000418986.1:p.Ser65Ter | |
| ENST00000586385.5:c.5-30498_5-30488del | ENSP00000465818.1:n.5-30498_5-30488del | |
| ENST00000591534.5:c.-43-19928_-43-19918del | ENSP00000467329.1:n.-43-19928_-43-19918de... | |
| ENST00000591849.5:c.-99+30822_-99+30832del | ENSP00000465347.1:n.-99+30822_-99+30832de... | |
| ENST00000634433.1:c.959_969del | ENSP00000489431.1:p.Ser320Ter | |
| NM_007294.3:c.1082_1092del , LRG_292t1:c.1082_1092del | NP_009225.1:p.Ser361Ter | |
| NM_007297.3:c.941_951del | NP_009228.2:p.Ser314Ter | |
| NM_007298.3:c.787+295_787+305del | NP_009229.2:n.787+295_787+305del | |
| NM_007299.3:c.787+295_787+305del | NP_009230.2:n.787+295_787+305del | |
| NM_007300.3:c.1082_1092del | NP_009231.2:p.Ser361Ter | |
| NR_027676.1:n.1218_1228del | ||
| NM_007294.4:c.1082_1092del MANE Select | NP_009225.1:p.Ser361Ter | |
| NM_007297.4:c.941_951del | NP_009228.2:p.Ser314Ter | |
| NM_007299.4:c.787+295_787+305del | NP_009230.2:n.787+295_787+305del | |
| NM_007300.4:c.1082_1092del | NP_009231.2:p.Ser361Ter | |
| NR_027676.2:n.1259_1269del |