ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094518_43094581del , CM000679.2:g.43094518_43094581del | GRCh38 |
| NC_000017.10:g.41246535_41246598del , CM000679.1:g.41246535_41246598del | GRCh37 |
| NC_000017.9:g.38500061_38500124del | NCBI36 |
| NG_005905.2:g.123405_123468del , LRG_292:g.123405_123468del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1016_1079del | ||
| ENST00000461574.2:c.952_1015del | ENSP00000417241.2:p.His318ArgfsTer2 | |
| ENST00000470026.6:c.952_1015del | ENSP00000419274.2:p.His318ArgfsTer2 | |
| ENST00000473961.6:c.826_889del | ENSP00000420201.2:p.His276ArgfsTer2 | |
| ENST00000476777.6:c.949_1012del | ENSP00000417554.2:p.His317ArgfsTer2 | |
| ENST00000477152.6:c.874_937del | ENSP00000419988.2:p.His292ArgfsTer2 | |
| ENST00000478531.6:c.784+165_784+228del | ENSP00000420412.2:n.784+165_784+228del | |
| ENST00000489037.2:c.874_937del | ENSP00000420781.2:p.His292ArgfsTer2 | |
| ENST00000493919.6:c.646+165_646+228del | ENSP00000418819.2:n.646+165_646+228del | |
| ENST00000494123.6:c.952_1015del | ENSP00000419103.2:p.His318ArgfsTer2 | |
| ENST00000497488.2:c.64_127del | ENSP00000418986.2:p.His22ArgfsTer2 | |
| ENST00000618469.2:c.952_1015del | ENSP00000478114.2:p.His318ArgfsTer2 | |
| ENST00000634433.2:c.829_892del | ENSP00000489431.2:p.His277ArgfsTer2 | |
| ENST00000644379.2:c.952_1015del | ENSP00000496570.2:p.His318ArgfsTer2 | |
| ENST00000644555.2:c.646+165_646+228del | ENSP00000494614.2:n.646+165_646+228del | |
| ENST00000652672.2:c.811_874del | ENSP00000498906.2:p.His271ArgfsTer2 | |
| ENST00000484087.6:c.664+165_664+228del | ENSP00000419481.2:n.664+165_664+228del | |
| ENST00000700182.1:c.706+165_706+228del | ENSP00000514849.1:n.706+165_706+228del | |
| ENST00000700183.1:c.*960_*1023del | ENSP00000514850.1:n.*960_*1023del | |
| ENST00000357654.9:c.952_1015del MANE Select | ENSP00000350283.3:p.His318ArgfsTer2 | |
| ENST00000471181.7:c.952_1015del | ENSP00000418960.2:p.His318ArgfsTer2 | |
| ENST00000642945.1:c.*826_*889del | ENSP00000495897.1:n.*826_*889del | |
| ENST00000652672.1:c.811_874del | ENSP00000498906.1:p.His271ArgfsTer2 | |
| ENST00000352993.7:c.670+1267_670+1330del | ENSP00000312236.5:n.670+1267_670+1330del | |
| ENST00000354071.7:c.952_1015del | ENSP00000326002.7:p.His318ArgfsTer2 | |
| ENST00000357654.7:c.952_1015del | ENSP00000350283.3:p.His318ArgfsTer2 | |
| ENST00000412061.3:c.303_366del | ||
| ENST00000461221.5:c.*735_*798del | ENSP00000418548.1:n.*735_*798del | |
| ENST00000468300.5:c.787+165_787+228del | ENSP00000417148.1:n.787+165_787+228del | |
| ENST00000470026.5:c.952_1015del | ENSP00000419274.1:p.His318ArgfsTer2 | |
| ENST00000471181.6:c.952_1015del | ENSP00000418960.2:p.His318ArgfsTer2 | |
| ENST00000473961.5:c.549_612del | ||
| ENST00000477152.5:c.874_937del | ENSP00000419988.1:p.His292ArgfsTer2 | |
| ENST00000478531.5:c.784+165_784+228del | ENSP00000420412.1:n.784+165_784+228del | |
| ENST00000484087.5:c.409+165_409+228del | ENSP00000419481.1:n.409+165_409+228del | |
| ENST00000487825.5:c.412+165_412+228del | ENSP00000418212.1:n.412+165_412+228del | |
| ENST00000491747.6:c.787+165_787+228del | ENSP00000420705.2:n.787+165_787+228del | |
| ENST00000492859.5:c.*888_*951del | ENSP00000420253.1:n.*888_*951del | |
| ENST00000493795.5:c.811_874del | ENSP00000418775.1:p.His271ArgfsTer2 | |
| ENST00000493919.5:c.646+165_646+228del | ENSP00000418819.1:n.646+165_646+228del | |
| ENST00000494123.5:c.952_1015del | ENSP00000419103.1:p.His318ArgfsTer2 | |
| ENST00000497488.1:c.64_127del | ENSP00000418986.1:p.His22ArgfsTer2 | |
| ENST00000586385.5:c.4+30603_5-30565del | ENSP00000465818.1:n.4+30603_5-30565del | |
| ENST00000591534.5:c.-43-20058_-43-19995del | ENSP00000467329.1:n.-43-20058_-43-19995del | |
| ENST00000591849.5:c.-99+30692_-99+30755del | ENSP00000465347.1:n.-99+30692_-99+30755del | |
| ENST00000634433.1:c.829_892del | ENSP00000489431.1:p.His277ArgfsTer2 | |
| NM_007294.3:c.952_1015del , LRG_292t1:c.952_1015del | NP_009225.1:p.His318ArgfsTer2 | |
| NM_007297.3:c.811_874del | NP_009228.2:p.His271ArgfsTer2 | |
| NM_007298.3:c.787+165_787+228del | NP_009229.2:n.787+165_787+228del | |
| NM_007299.3:c.787+165_787+228del | NP_009230.2:n.787+165_787+228del | |
| NM_007300.3:c.952_1015del | NP_009231.2:p.His318ArgfsTer2 | |
| NR_027676.1:n.1088_1151del | ||
| NM_007294.4:c.952_1015del MANE Select | NP_009225.1:p.His318ArgfsTer2 | |
| NM_007297.4:c.811_874del | NP_009228.2:p.His271ArgfsTer2 | |
| NM_007299.4:c.787+165_787+228del | NP_009230.2:n.787+165_787+228del | |
| NM_007300.4:c.952_1015del | NP_009231.2:p.His318ArgfsTer2 | |
| NR_027676.2:n.1129_1192del |