ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093144_43093145delinsA , CM000679.2:g.43093144_43093145delinsA | GRCh38 |
| NC_000017.10:g.41245161_41245162delinsA , CM000679.1:g.41245161_41245162delinsA | GRCh37 |
| NC_000017.9:g.38498687_38498688delinsA | NCBI36 |
| NG_005905.2:g.124839_124840delinsT , LRG_292:g.124839_124840delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.2450_2451delinsT | ||
| ENST00000461574.2:c.2386_2387delinsT | ENSP00000417241.2:p.Thr796Ter | |
| ENST00000470026.6:c.2386_2387delinsT | ENSP00000419274.2:p.Thr796Ter | |
| ENST00000473961.6:c.2260_2261delinsT | ENSP00000420201.2:p.Thr754Ter | |
| ENST00000476777.6:c.2383_2384delinsT | ENSP00000417554.2:p.Thr795Ter | |
| ENST00000477152.6:c.2308_2309delinsT | ENSP00000419988.2:p.Thr770Ter | |
| ENST00000478531.6:c.784+1599_784+1600delinsT | ENSP00000420412.2:n.784+1599_784+1600delinsT | |
| ENST00000489037.2:c.2308_2309delinsT | ENSP00000420781.2:p.Thr770Ter | |
| ENST00000493919.6:c.646+1599_646+1600delinsT | ENSP00000418819.2:n.646+1599_646+1600delinsT | |
| ENST00000494123.6:c.2386_2387delinsT | ENSP00000419103.2:p.Thr796Ter | |
| ENST00000497488.2:c.1498_1499delinsT | ENSP00000418986.2:p.Thr500Ter | |
| ENST00000618469.2:c.2386_2387delinsT | ENSP00000478114.2:p.Thr796Ter | |
| ENST00000634433.2:c.2263_2264delinsT | ENSP00000489431.2:p.Thr755Ter | |
| ENST00000644379.2:c.2386_2387delinsT | ENSP00000496570.2:p.Thr796Ter | |
| ENST00000644555.2:c.646+1599_646+1600delinsT | ENSP00000494614.2:n.646+1599_646+1600delinsT | |
| ENST00000652672.2:c.2245_2246delinsT | ENSP00000498906.2:p.Thr749Ter | |
| ENST00000484087.6:c.664+1599_664+1600delinsT | ENSP00000419481.2:n.664+1599_664+1600delinsT | |
| ENST00000700182.1:c.706+1599_706+1600delinsT | ENSP00000514849.1:n.706+1599_706+1600delinsT | |
| ENST00000357654.9:c.2386_2387delinsT MANE Select | ENSP00000350283.3:p.Thr796Ter | |
| ENST00000471181.7:c.2386_2387delinsT | ENSP00000418960.2:p.Thr796Ter | |
| ENST00000352993.7:c.671-2113_671-2112delinsT | ENSP00000312236.5:n.671-2113_671-2112delinsT | |
| ENST00000354071.7:c.2386_2387delinsT | ENSP00000326002.7:p.Thr796Ter | |
| ENST00000357654.7:c.2386_2387delinsT | ENSP00000350283.3:p.Thr796Ter | |
| ENST00000461221.5:c.*2169_*2170delinsT | ENSP00000418548.1:n.*2169_*2170delinsT | |
| ENST00000468300.5:c.787+1599_787+1600delinsT | ENSP00000417148.1:n.787+1599_787+1600delinsT | |
| ENST00000471181.6:c.2386_2387delinsT | ENSP00000418960.2:p.Thr796Ter | |
| ENST00000478531.5:c.784+1599_784+1600delinsT | ENSP00000420412.1:n.784+1599_784+1600delinsT | |
| ENST00000484087.5:c.409+1599_409+1600delinsT | ENSP00000419481.1:n.409+1599_409+1600delinsT | |
| ENST00000487825.5:c.412+1599_412+1600delinsT | ENSP00000418212.1:n.412+1599_412+1600delinsT | |
| ENST00000491747.6:c.787+1599_787+1600delinsT | ENSP00000420705.2:n.787+1599_787+1600delinsT | |
| ENST00000493795.5:c.2245_2246delinsT | ENSP00000418775.1:p.Thr749Ter | |
| ENST00000493919.5:c.646+1599_646+1600delinsT | ENSP00000418819.1:n.646+1599_646+1600delinsT | |
| ENST00000586385.5:c.5-29194_5-29193delinsT | ENSP00000465818.1:n.5-29194_5-29193delinsT | |
| ENST00000591534.5:c.-43-18624_-43-18623delinsT | ENSP00000467329.1:n.-43-18624_-43-18623delinsT | |
| ENST00000591849.5:c.-99+32126_-99+32127delinsT | ENSP00000465347.1:n.-99+32126_-99+32127delinsT | |
| ENST00000634433.1:c.2263_2264delinsT | ENSP00000489431.1:p.Thr755Ter | |
| NM_007294.3:c.2386_2387delinsT , LRG_292t1:c.2386_2387delinsT | NP_009225.1:p.Thr796Ter | |
| NM_007297.3:c.2245_2246delinsT | NP_009228.2:p.Thr749Ter | |
| NM_007298.3:c.787+1599_787+1600delinsT | NP_009229.2:n.787+1599_787+1600delinsT | |
| NM_007299.3:c.787+1599_787+1600delinsT | NP_009230.2:n.787+1599_787+1600delinsT | |
| NM_007300.3:c.2386_2387delinsT | NP_009231.2:p.Thr796Ter | |
| NR_027676.1:n.2522_2523delinsT | ||
| NM_007294.4:c.2386_2387delinsT MANE Select | NP_009225.1:p.Thr796Ter | |
| NM_007297.4:c.2245_2246delinsT | NP_009228.2:p.Thr749Ter | |
| NM_007299.4:c.787+1599_787+1600delinsT | NP_009230.2:n.787+1599_787+1600delinsT | |
| NM_007300.4:c.2386_2387delinsT | NP_009231.2:p.Thr796Ter | |
| NR_027676.2:n.2563_2564delinsT |