ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094315_43094316del , CM000679.2:g.43094315_43094316del | GRCh38 |
| NC_000017.10:g.41246332_41246333del , CM000679.1:g.41246332_41246333del | GRCh37 |
| NC_000017.9:g.38499858_38499859del | NCBI36 |
| NG_005905.2:g.123669_123670del , LRG_292:g.123669_123670del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1280_1281del | ||
| ENST00000461574.2:c.1216_1217del | ENSP00000417241.2:p.Asn406CysfsTer5 | |
| ENST00000470026.6:c.1216_1217del | ENSP00000419274.2:p.Asn406CysfsTer5 | |
| ENST00000473961.6:c.1090_1091del | ENSP00000420201.2:p.Asn364CysfsTer5 | |
| ENST00000476777.6:c.1213_1214del | ENSP00000417554.2:p.Asn405CysfsTer5 | |
| ENST00000477152.6:c.1138_1139del | ENSP00000419988.2:p.Asn380CysfsTer5 | |
| ENST00000478531.6:c.784+429_784+430del | ENSP00000420412.2:n.784+429_784+430del | |
| ENST00000489037.2:c.1138_1139del | ENSP00000420781.2:p.Asn380CysfsTer5 | |
| ENST00000493919.6:c.646+429_646+430del | ENSP00000418819.2:n.646+429_646+430del | |
| ENST00000494123.6:c.1216_1217del | ENSP00000419103.2:p.Asn406CysfsTer5 | |
| ENST00000497488.2:c.328_329del | ENSP00000418986.2:p.Asn110CysfsTer5 | |
| ENST00000618469.2:c.1216_1217del | ENSP00000478114.2:p.Asn406CysfsTer5 | |
| ENST00000634433.2:c.1093_1094del | ENSP00000489431.2:p.Asn365CysfsTer5 | |
| ENST00000644379.2:c.1216_1217del | ENSP00000496570.2:p.Asn406CysfsTer5 | |
| ENST00000644555.2:c.646+429_646+430del | ENSP00000494614.2:n.646+429_646+430del | |
| ENST00000652672.2:c.1075_1076del | ENSP00000498906.2:p.Asn359CysfsTer5 | |
| ENST00000484087.6:c.664+429_664+430del | ENSP00000419481.2:n.664+429_664+430del | |
| ENST00000700182.1:c.706+429_706+430del | ENSP00000514849.1:n.706+429_706+430del | |
| ENST00000700183.1:c.*1224_*1225del | ENSP00000514850.1:n.*1224_*1225del | |
| ENST00000357654.9:c.1216_1217del MANE Select | ENSP00000350283.3:p.Asn406CysfsTer5 | |
| ENST00000471181.7:c.1216_1217del | ENSP00000418960.2:p.Asn406CysfsTer5 | |
| ENST00000652672.1:c.1075_1076del | ENSP00000498906.1:p.Asn359CysfsTer5 | |
| ENST00000352993.7:c.670+1531_670+1532del | ENSP00000312236.5:n.670+1531_670+1532del | |
| ENST00000354071.7:c.1216_1217del | ENSP00000326002.7:p.Asn406CysfsTer5 | |
| ENST00000357654.7:c.1216_1217del | ENSP00000350283.3:p.Asn406CysfsTer5 | |
| ENST00000412061.3:c.567_568del | ||
| ENST00000461221.5:c.*999_*1000del | ENSP00000418548.1:n.*999_*1000del | |
| ENST00000468300.5:c.787+429_787+430del | ENSP00000417148.1:n.787+429_787+430del | |
| ENST00000470026.5:c.1216_1217del | ENSP00000419274.1:p.Asn406CysfsTer5 | |
| ENST00000471181.6:c.1216_1217del | ENSP00000418960.2:p.Asn406CysfsTer5 | |
| ENST00000473961.5:c.813_814del | ||
| ENST00000477152.5:c.1138_1139del | ENSP00000419988.1:p.Asn380CysfsTer5 | |
| ENST00000478531.5:c.784+429_784+430del | ENSP00000420412.1:n.784+429_784+430del | |
| ENST00000484087.5:c.409+429_409+430del | ENSP00000419481.1:n.409+429_409+430del | |
| ENST00000487825.5:c.412+429_412+430del | ENSP00000418212.1:n.412+429_412+430del | |
| ENST00000491747.6:c.787+429_787+430del | ENSP00000420705.2:n.787+429_787+430del | |
| ENST00000492859.5:c.*1152_*1153del | ENSP00000420253.1:n.*1152_*1153del | |
| ENST00000493795.5:c.1075_1076del | ENSP00000418775.1:p.Asn359CysfsTer5 | |
| ENST00000493919.5:c.646+429_646+430del | ENSP00000418819.1:n.646+429_646+430del | |
| ENST00000494123.5:c.1216_1217del | ENSP00000419103.1:p.Asn406CysfsTer5 | |
| ENST00000497488.1:c.328_329del | ENSP00000418986.1:p.Asn110CysfsTer5 | |
| ENST00000586385.5:c.5-30364_5-30363del | ENSP00000465818.1:n.5-30364_5-30363del | |
| ENST00000591534.5:c.-43-19794_-43-19793del | ENSP00000467329.1:n.-43-19794_-43-19793del | |
| ENST00000591849.5:c.-99+30956_-99+30957del | ENSP00000465347.1:n.-99+30956_-99+30957del | |
| ENST00000634433.1:c.1093_1094del | ENSP00000489431.1:p.Asn365CysfsTer5 | |
| NM_007294.3:c.1216_1217del , LRG_292t1:c.1216_1217del | NP_009225.1:p.Asn406CysfsTer5 | |
| NM_007297.3:c.1075_1076del | NP_009228.2:p.Asn359CysfsTer5 | |
| NM_007298.3:c.787+429_787+430del | NP_009229.2:n.787+429_787+430del | |
| NM_007299.3:c.787+429_787+430del | NP_009230.2:n.787+429_787+430del | |
| NM_007300.3:c.1216_1217del | NP_009231.2:p.Asn406CysfsTer5 | |
| NR_027676.1:n.1352_1353del | ||
| NM_007294.4:c.1216_1217del MANE Select | NP_009225.1:p.Asn406CysfsTer5 | |
| NM_007297.4:c.1075_1076del | NP_009228.2:p.Asn359CysfsTer5 | |
| NM_007299.4:c.787+429_787+430del | NP_009230.2:n.787+429_787+430del | |
| NM_007300.4:c.1216_1217del | NP_009231.2:p.Asn406CysfsTer5 | |
| NR_027676.2:n.1393_1394del |