Linked Data
ClinVar Variation Id:
17683
ClinVar RCV Id:
RCV000019253
RCV000131872
RCV000049168
RCV000412670
RCV000735511
RCV002496415
RCV003992160
dbSNP Id:
rs80357919
gnomAD v4:
17-43094684-ATGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094685_43094688del , CM000679.2:g.43094685_43094688del | GRCh38 |
| NC_000017.10:g.41246702_41246705del , CM000679.1:g.41246702_41246705del | GRCh37 |
| NC_000017.9:g.38500228_38500231del | NCBI36 |
| NG_005905.2:g.123296_123299del , LRG_292:g.123296_123299del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.907_910del | ||
| ENST00000461574.2:c.843_846del | ENSP00000417241.2:p.Ser282TyrfsTer15 | |
| ENST00000470026.6:c.843_846del | ENSP00000419274.2:p.Ser282TyrfsTer15 | |
| ENST00000473961.6:c.717_720del | ENSP00000420201.2:p.Ser240TyrfsTer15 | |
| ENST00000476777.6:c.840_843del | ENSP00000417554.2:p.Ser281TyrfsTer15 | |
| ENST00000477152.6:c.765_768del | ENSP00000419988.2:p.Ser256TyrfsTer15 | |
| ENST00000478531.6:c.784+56_784+59del | ENSP00000420412.2:n.784+56_784+59del | |
| ENST00000489037.2:c.765_768del | ENSP00000420781.2:p.Ser256TyrfsTer15 | |
| ENST00000493919.6:c.646+56_646+59del | ENSP00000418819.2:n.646+56_646+59del | |
| ENST00000494123.6:c.843_846del | ENSP00000419103.2:p.Ser282TyrfsTer15 | |
| ENST00000497488.2:c.-46_-43del | ENSP00000418986.2:n.-46_-43del | |
| ENST00000618469.2:c.843_846del | ENSP00000478114.2:p.Ser282TyrfsTer15 | |
| ENST00000634433.2:c.720_723del | ENSP00000489431.2:p.Ser241TyrfsTer15 | |
| ENST00000644379.2:c.843_846del | ENSP00000496570.2:p.Ser282TyrfsTer15 | |
| ENST00000644555.2:c.646+56_646+59del | ENSP00000494614.2:n.646+56_646+59del | |
| ENST00000652672.2:c.702_705del | ENSP00000498906.2:p.Ser235TyrfsTer15 | |
| ENST00000484087.6:c.664+56_664+59del | ENSP00000419481.2:n.664+56_664+59del | |
| ENST00000700182.1:c.706+56_706+59del | ENSP00000514849.1:n.706+56_706+59del | |
| ENST00000700183.1:c.*851_*854del | ENSP00000514850.1:n.*851_*854del | |
| ENST00000357654.9:c.843_846del MANE Select | ENSP00000350283.3:p.Ser282TyrfsTer15 | |
| ENST00000471181.7:c.843_846del | ENSP00000418960.2:p.Ser282TyrfsTer15 | |
| ENST00000642945.1:c.*717_*720del | ENSP00000495897.1:n.*717_*720del | |
| ENST00000652672.1:c.702_705del | ENSP00000498906.1:p.Ser235TyrfsTer15 | |
| ENST00000352993.7:c.670+1158_670+1161del | ENSP00000312236.5:n.670+1158_670+1161del | |
| ENST00000354071.7:c.843_846del | ENSP00000326002.7:p.Ser282TyrfsTer15 | |
| ENST00000357654.7:c.843_846del | ENSP00000350283.3:p.Ser282TyrfsTer15 | |
| ENST00000412061.3:c.194_197del | ||
| ENST00000461221.5:c.*626_*629del | ENSP00000418548.1:n.*626_*629del | |
| ENST00000468300.5:c.787+56_787+59del | ENSP00000417148.1:n.787+56_787+59del | |
| ENST00000470026.5:c.843_846del | ENSP00000419274.1:p.Ser282TyrfsTer15 | |
| ENST00000471181.6:c.843_846del | ENSP00000418960.2:p.Ser282TyrfsTer15 | |
| ENST00000473961.5:c.440_443del | ||
| ENST00000477152.5:c.765_768del | ENSP00000419988.1:p.Ser256TyrfsTer15 | |
| ENST00000478531.5:c.784+56_784+59del | ENSP00000420412.1:n.784+56_784+59del | |
| ENST00000484087.5:c.409+56_409+59del | ENSP00000419481.1:n.409+56_409+59del | |
| ENST00000487825.5:c.412+56_412+59del | ENSP00000418212.1:n.412+56_412+59del | |
| ENST00000491747.6:c.787+56_787+59del | ENSP00000420705.2:n.787+56_787+59del | |
| ENST00000492859.5:c.*779_*782del | ENSP00000420253.1:n.*779_*782del | |
| ENST00000493795.5:c.702_705del | ENSP00000418775.1:p.Ser235TyrfsTer15 | |
| ENST00000493919.5:c.646+56_646+59del | ENSP00000418819.1:n.646+56_646+59del | |
| ENST00000494123.5:c.843_846del | ENSP00000419103.1:p.Ser282TyrfsTer15 | |
| ENST00000497488.1:c.-46_-43del | ENSP00000418986.1:n.-46_-43del | |
| ENST00000586385.5:c.4+30494_4+30497del | ENSP00000465818.1:n.4+30494_4+30497del | |
| ENST00000591534.5:c.-43-20167_-43-20164del | ENSP00000467329.1:n.-43-20167_-43-20164del | |
| ENST00000591849.5:c.-99+30583_-99+30586del | ENSP00000465347.1:n.-99+30583_-99+30586del | |
| ENST00000634433.1:c.720_723del | ENSP00000489431.1:p.Ser241TyrfsTer15 | |
| NM_007294.3:c.843_846del , LRG_292t1:c.843_846del | NP_009225.1:p.Ser282TyrfsTer15 | |
| NM_007297.3:c.702_705del | NP_009228.2:p.Ser235TyrfsTer15 | |
| NM_007298.3:c.787+56_787+59del | NP_009229.2:n.787+56_787+59del | |
| NM_007299.3:c.787+56_787+59del | NP_009230.2:n.787+56_787+59del | |
| NM_007300.3:c.843_846del | NP_009231.2:p.Ser282TyrfsTer15 | |
| NR_027676.1:n.979_982del | ||
| NM_007294.4:c.843_846del MANE Select | NP_009225.1:p.Ser282TyrfsTer15 | |
| NM_007297.4:c.702_705del | NP_009228.2:p.Ser235TyrfsTer15 | |
| NM_007299.4:c.787+56_787+59del | NP_009230.2:n.787+56_787+59del | |
| NM_007300.4:c.843_846del | NP_009231.2:p.Ser282TyrfsTer15 | |
| NR_027676.2:n.1020_1023del |