Linked Data
ClinVar Variation Id:
55705
dbSNP Id:
rs80357707
ExAC:
17:41246753 AGAAC / A
gnomAD v2:
17-41246753-AGAAC-A
gnomAD v4:
17-43094736-AGAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094737_43094740del , CM000679.2:g.43094737_43094740del | GRCh38 |
| NC_000017.10:g.41246754_41246757del , CM000679.1:g.41246754_41246757del | GRCh37 |
| NC_000017.9:g.38500280_38500283del | NCBI36 |
| NG_005905.2:g.123244_123247del , LRG_292:g.123244_123247del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.855_858del | ||
| ENST00000461574.2:c.791_794del | ENSP00000417241.2:p.Ser264MetfsTer? | |
| ENST00000470026.6:c.791_794del | ENSP00000419274.2:p.Ser264MetfsTer? | |
| ENST00000473961.6:c.665_668del | ENSP00000420201.2:p.Ser222MetfsTer? | |
| ENST00000476777.6:c.788_791del | ENSP00000417554.2:p.Ser263MetfsTer? | |
| ENST00000477152.6:c.713_716del | ENSP00000419988.2:p.Ser238MetfsTer? | |
| ENST00000478531.6:c.784+4_784+7del | ENSP00000420412.2:n.784+4_784+7del | |
| ENST00000489037.2:c.713_716del | ENSP00000420781.2:p.Ser238MetfsTer? | |
| ENST00000493919.6:c.646+4_646+7del | ENSP00000418819.2:n.646+4_646+7del | |
| ENST00000494123.6:c.791_794del | ENSP00000419103.2:p.Ser264MetfsTer? | |
| ENST00000497488.2:c.-98_-95del | ENSP00000418986.2:n.-98_-95del | |
| ENST00000618469.2:c.791_794del | ENSP00000478114.2:p.Ser264MetfsTer? | |
| ENST00000634433.2:c.668_671del | ENSP00000489431.2:p.Ser223MetfsTer? | |
| ENST00000644379.2:c.791_794del | ENSP00000496570.2:p.Ser264MetfsTer? | |
| ENST00000644555.2:c.646+4_646+7del | ENSP00000494614.2:n.646+4_646+7del | |
| ENST00000652672.2:c.650_653del | ENSP00000498906.2:p.Ser217MetfsTer? | |
| ENST00000484087.6:c.664+4_664+7del | ENSP00000419481.2:n.664+4_664+7del | |
| ENST00000700182.1:c.706+4_706+7del | ENSP00000514849.1:n.706+4_706+7del | |
| ENST00000700183.1:c.*799_*802del | ENSP00000514850.1:n.*799_*802del | |
| ENST00000357654.9:c.791_794del MANE Select | ENSP00000350283.3:p.Ser264MetfsTer? | |
| ENST00000471181.7:c.791_794del | ENSP00000418960.2:p.Ser264MetfsTer? | |
| ENST00000642945.1:c.*665_*668del | ENSP00000495897.1:n.*665_*668del | |
| ENST00000652672.1:c.650_653del | ENSP00000498906.1:p.Ser217MetfsTer? | |
| ENST00000352993.7:c.670+1106_670+1109del | ENSP00000312236.5:n.670+1106_670+1109del | |
| ENST00000354071.7:c.791_794del | ENSP00000326002.7:p.Ser264MetfsTer? | |
| ENST00000357654.7:c.791_794del | ENSP00000350283.3:p.Ser264MetfsTer? | |
| ENST00000412061.3:c.142_145del | ||
| ENST00000461221.5:c.*574_*577del | ENSP00000418548.1:n.*574_*577del | |
| ENST00000468300.5:c.787+4_787+7del | ENSP00000417148.1:n.787+4_787+7del | |
| ENST00000470026.5:c.791_794del | ENSP00000419274.1:p.Ser264MetfsTer? | |
| ENST00000471181.6:c.791_794del | ENSP00000418960.2:p.Ser264MetfsTer? | |
| ENST00000473961.5:c.388_391del | ||
| ENST00000477152.5:c.713_716del | ENSP00000419988.1:p.Ser238MetfsTer? | |
| ENST00000478531.5:c.784+4_784+7del | ENSP00000420412.1:n.784+4_784+7del | |
| ENST00000484087.5:c.409+4_409+7del | ENSP00000419481.1:n.409+4_409+7del | |
| ENST00000487825.5:c.412+4_412+7del | ENSP00000418212.1:n.412+4_412+7del | |
| ENST00000491747.6:c.787+4_787+7del | ENSP00000420705.2:n.787+4_787+7del | |
| ENST00000492859.5:c.*727_*730del | ENSP00000420253.1:n.*727_*730del | |
| ENST00000493795.5:c.650_653del | ENSP00000418775.1:p.Ser217MetfsTer? | |
| ENST00000493919.5:c.646+4_646+7del | ENSP00000418819.1:n.646+4_646+7del | |
| ENST00000494123.5:c.791_794del | ENSP00000419103.1:p.Ser264MetfsTer? | |
| ENST00000497488.1:c.-98_-95del | ENSP00000418986.1:n.-98_-95del | |
| ENST00000586385.5:c.4+30442_4+30445del | ENSP00000465818.1:n.4+30442_4+30445del | |
| ENST00000591534.5:c.-43-20219_-43-20216del | ENSP00000467329.1:n.-43-20219_-43-20216de... | |
| ENST00000591849.5:c.-99+30531_-99+30534del | ENSP00000465347.1:n.-99+30531_-99+30534de... | |
| ENST00000634433.1:c.668_671del | ENSP00000489431.1:p.Ser223MetfsTer? | |
| NM_007294.3:c.791_794del , LRG_292t1:c.791_794del | NP_009225.1:p.Ser264MetfsTer? | |
| NM_007297.3:c.650_653del | NP_009228.2:p.Ser217MetfsTer? | |
| NM_007298.3:c.787+4_787+7del | NP_009229.2:n.787+4_787+7del | |
| NM_007299.3:c.787+4_787+7del | NP_009230.2:n.787+4_787+7del | |
| NM_007300.3:c.791_794del | NP_009231.2:p.Ser264MetfsTer? | |
| NR_027676.1:n.927_930del | ||
| NM_007294.4:c.791_794del MANE Select | NP_009225.1:p.Ser264MetfsTer? | |
| NM_007297.4:c.650_653del | NP_009228.2:p.Ser217MetfsTer? | |
| NM_007299.4:c.787+4_787+7del | NP_009230.2:n.787+4_787+7del | |
| NM_007300.4:c.791_794del | NP_009231.2:p.Ser264MetfsTer? | |
| NR_027676.2:n.968_971del |