Linked Data
ClinVar Variation Id:
54558
dbSNP Id:
rs80357706
ExAC:
17:41245141 TCA / T
gnomAD v2:
17-41245141-TCA-T
gnomAD v4:
17-43093124-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093129_43093130del , CM000679.2:g.43093129_43093130del | GRCh38 |
| NC_000017.10:g.41245146_41245147del , CM000679.1:g.41245146_41245147del | GRCh37 |
| NC_000017.9:g.38498672_38498673del | NCBI36 |
| NG_005905.2:g.124858_124859del , LRG_292:g.124858_124859del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.2469_2470del | ||
| ENST00000461574.2:c.2405_2406del | ENSP00000417241.2:p.Val802GlufsTer7 | |
| ENST00000470026.6:c.2405_2406del | ENSP00000419274.2:p.Val802GlufsTer7 | |
| ENST00000473961.6:c.2279_2280del | ENSP00000420201.2:p.Val760GlufsTer7 | |
| ENST00000476777.6:c.2402_2403del | ENSP00000417554.2:p.Val801GlufsTer7 | |
| ENST00000477152.6:c.2327_2328del | ENSP00000419988.2:p.Val776GlufsTer7 | |
| ENST00000478531.6:c.784+1618_784+1619del | ENSP00000420412.2:n.784+1618_784+1619del | |
| ENST00000489037.2:c.2327_2328del | ENSP00000420781.2:p.Val776GlufsTer7 | |
| ENST00000493919.6:c.646+1618_646+1619del | ENSP00000418819.2:n.646+1618_646+1619del | |
| ENST00000494123.6:c.2405_2406del | ENSP00000419103.2:p.Val802GlufsTer7 | |
| ENST00000497488.2:c.1517_1518del | ENSP00000418986.2:p.Val506GlufsTer7 | |
| ENST00000618469.2:c.2405_2406del | ENSP00000478114.2:p.Val802GlufsTer7 | |
| ENST00000634433.2:c.2282_2283del | ENSP00000489431.2:p.Val761GlufsTer7 | |
| ENST00000644379.2:c.2405_2406del | ENSP00000496570.2:p.Val802GlufsTer7 | |
| ENST00000644555.2:c.646+1618_646+1619del | ENSP00000494614.2:n.646+1618_646+1619del | |
| ENST00000652672.2:c.2264_2265del | ENSP00000498906.2:p.Val755GlufsTer7 | |
| ENST00000484087.6:c.664+1618_664+1619del | ENSP00000419481.2:n.664+1618_664+1619del | |
| ENST00000700182.1:c.706+1618_706+1619del | ENSP00000514849.1:n.706+1618_706+1619del | |
| ENST00000357654.9:c.2405_2406del MANE Select | ENSP00000350283.3:p.Val802GlufsTer7 | |
| ENST00000471181.7:c.2405_2406del | ENSP00000418960.2:p.Val802GlufsTer7 | |
| ENST00000352993.7:c.671-2094_671-2093del | ENSP00000312236.5:n.671-2094_671-2093del | |
| ENST00000354071.7:c.2405_2406del | ENSP00000326002.7:p.Val802GlufsTer7 | |
| ENST00000357654.7:c.2405_2406del | ENSP00000350283.3:p.Val802GlufsTer7 | |
| ENST00000461221.5:c.*2188_*2189del | ENSP00000418548.1:n.*2188_*2189del | |
| ENST00000468300.5:c.787+1618_787+1619del | ENSP00000417148.1:n.787+1618_787+1619del | |
| ENST00000471181.6:c.2405_2406del | ENSP00000418960.2:p.Val802GlufsTer7 | |
| ENST00000478531.5:c.784+1618_784+1619del | ENSP00000420412.1:n.784+1618_784+1619del | |
| ENST00000484087.5:c.409+1618_409+1619del | ENSP00000419481.1:n.409+1618_409+1619del | |
| ENST00000487825.5:c.412+1618_412+1619del | ENSP00000418212.1:n.412+1618_412+1619del | |
| ENST00000491747.6:c.787+1618_787+1619del | ENSP00000420705.2:n.787+1618_787+1619del | |
| ENST00000493795.5:c.2264_2265del | ENSP00000418775.1:p.Val755GlufsTer7 | |
| ENST00000493919.5:c.646+1618_646+1619del | ENSP00000418819.1:n.646+1618_646+1619del | |
| ENST00000586385.5:c.5-29175_5-29174del | ENSP00000465818.1:n.5-29175_5-29174del | |
| ENST00000591534.5:c.-43-18605_-43-18604del | ENSP00000467329.1:n.-43-18605_-43-18604del | |
| ENST00000591849.5:c.-99+32145_-99+32146del | ENSP00000465347.1:n.-99+32145_-99+32146del | |
| ENST00000634433.1:c.2282_2283del | ENSP00000489431.1:p.Val761GlufsTer7 | |
| NM_007294.3:c.2405_2406del , LRG_292t1:c.2405_2406del | NP_009225.1:p.Val802GlufsTer7 | |
| NM_007297.3:c.2264_2265del | NP_009228.2:p.Val755GlufsTer7 | |
| NM_007298.3:c.787+1618_787+1619del | NP_009229.2:n.787+1618_787+1619del | |
| NM_007299.3:c.787+1618_787+1619del | NP_009230.2:n.787+1618_787+1619del | |
| NM_007300.3:c.2405_2406del | NP_009231.2:p.Val802GlufsTer7 | |
| NR_027676.1:n.2541_2542del | ||
| NM_007294.4:c.2405_2406del MANE Select | NP_009225.1:p.Val802GlufsTer7 | |
| NM_007297.4:c.2264_2265del | NP_009228.2:p.Val755GlufsTer7 | |
| NM_007299.4:c.787+1618_787+1619del | NP_009230.2:n.787+1618_787+1619del | |
| NM_007300.4:c.2405_2406del | NP_009231.2:p.Val802GlufsTer7 | |
| NR_027676.2:n.2582_2583del |