Linked Data
ClinVar Variation Id:
357861
ClinVar RCV Id:
RCV001516407
dbSNP Id:
rs113359739
ExAC:
6:73102522 A / AT
gnomAD v2:
6-73102522-A-AT
gnomAD v3:
6-72392820-A-AT
gnomAD v4:
6-72392820-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.72392830dup , CM000668.2:g.72392830dup | GRCh38 |
| NC_000006.11:g.73102532dup , CM000668.1:g.73102532dup | GRCh37 |
| NC_000006.10:g.73159253dup | NCBI36 |
| NG_016209.1:g.510883dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.4087+20dup | ENSP00000513179.1:n.4087+20dup | |
| ENST00000521978.6:c.4618+20dup MANE Select | ENSP00000428417.1:n.4618+20dup | |
| ENST00000264839.11:c.4165+20dup | ENSP00000264839.7:n.4165+20dup | |
| ENST00000370420.8:c.1762+20dup | ENSP00000359448.4:n.1762+20dup | |
| ENST00000401910.7:c.2578+20dup | ENSP00000385649.3:n.2578+20dup | |
| ENST00000414192.2:c.199+20dup | ENSP00000402273.2:n.199+20dup | |
| ENST00000425662.6:c.1822+20dup | ENSP00000411235.2:n.1822+20dup | |
| ENST00000431478.2:n.444+20dup | ||
| ENST00000453976.6:c.2113+20dup | ENSP00000389503.2:n.2113+20dup | |
| ENST00000463023.6:n.506+20dup | ||
| ENST00000491071.6:c.4087+20dup | ENSP00000430101.1:n.4087+20dup | |
| ENST00000517433.5:c.2654+20dup | ||
| ENST00000517827.5:c.2020+20dup | ENSP00000428367.1:n.2020+20dup | |
| ENST00000517960.5:c.3967+20dup | ENSP00000429959.1:n.3967+20dup | |
| ENST00000518273.5:c.3655+20dup | ENSP00000430408.1:n.3655+20dup | |
| ENST00000520567.5:c.3568+20dup | ENSP00000430502.1:n.3568+20dup | |
| ENST00000521978.5:c.4618+20dup | ENSP00000428417.1:n.4618+20dup | |
| ENST00000522211.5:c.1371+20dup | ||
| ENST00000522291.5:c.3415+20dup | ENSP00000430932.1:n.3415+20dup | |
| ENST00000523963.5:c.1993+20dup | ENSP00000428328.1:n.1993+20dup | |
| NM_001168407.1:c.2578+20dup | NP_001161879.1:n.2578+20dup | |
| NM_001168408.1:c.1993+20dup | NP_001161880.1:n.1993+20dup | |
| NM_001168409.1:c.1822+20dup | NP_001161881.1:n.1822+20dup | |
| NM_001168410.1:c.2020+20dup | NP_001161882.1:n.2020+20dup | |
| NM_001168411.1:c.199+20dup | NP_001161883.1:n.199+20dup | |
| NM_014989.5:c.4618+20dup | NP_055804.2:n.4618+20dup | |
| XM_005248688.2:c.4087+20dup | XP_005248745.1:n.4087+20dup | |
| XM_011535602.1:c.2791+20dup | XP_011533904.1:n.2791+20dup | |
| XM_011535603.1:c.2638+20dup | XP_011533905.1:n.2638+20dup | |
| XM_011535604.1:c.2575+20dup | XP_011533906.1:n.2575+20dup | |
| XM_011535605.1:c.4564+20dup | XP_011533907.1:n.4564+20dup | |
| XM_011535606.1:c.2536+20dup | XP_011533908.1:n.2536+20dup | |
| XM_011535607.1:c.2518+20dup | XP_011533909.1:n.2518+20dup | |
| XM_011535608.1:c.2455+20dup | XP_011533910.1:n.2455+20dup | |
| XM_011535609.1:c.2386+20dup | XP_011533911.1:n.2386+20dup | |
| XM_011535610.1:c.2383+20dup | XP_011533912.1:n.2383+20dup | |
| XM_011535611.1:c.2350+20dup | XP_011533913.1:n.2350+20dup | |
| XM_011535612.1:c.2062+20dup | XP_011533914.1:n.2062+20dup | |
| XM_011535613.1:c.1990+20dup | XP_011533915.1:n.1990+20dup | |
| XM_011535615.1:c.1987+20dup | XP_011533917.1:n.1987+20dup | |
| XM_011535616.1:c.1972+20dup | XP_011533918.1:n.1972+20dup | |
| XM_011535617.1:c.1834+20dup | XP_011533919.1:n.1834+20dup | |
| XM_011535618.1:c.910+20dup | XP_011533920.1:n.910+20dup | |
| NM_001350414.1:c.2539+20dup | NP_001337343.1:n.2539+20dup | |
| NM_001350415.1:c.2635+20dup | NP_001337344.1:n.2635+20dup | |
| NM_001350416.1:c.2584+20dup | NP_001337345.1:n.2584+20dup | |
| NM_001350417.1:c.2065+20dup | NP_001337346.1:n.2065+20dup | |
| NM_001350418.1:c.2557+20dup | NP_001337347.1:n.2557+20dup | |
| NM_001350419.1:c.1837+20dup | NP_001337348.1:n.1837+20dup | |
| NM_001350420.1:c.2692+20dup | NP_001337349.1:n.2692+20dup | |
| NM_001350421.1:c.2437+20dup | NP_001337350.1:n.2437+20dup | |
| NM_001350422.1:c.2062+20dup | NP_001337351.1:n.2062+20dup | |
| NM_001350423.1:c.2326+20dup | NP_001337352.1:n.2326+20dup | |
| NM_001350424.1:c.1924+20dup | NP_001337353.1:n.1924+20dup | |
| NM_001350425.1:c.2536+20dup | NP_001337354.1:n.2536+20dup | |
| NM_001350426.1:c.1912+20dup | NP_001337355.1:n.1912+20dup | |
| NM_001350427.1:c.1990+20dup | NP_001337356.1:n.1990+20dup | |
| NM_001350428.1:c.1996+20dup | NP_001337357.1:n.1996+20dup | |
| NM_001350429.1:c.2356+20dup | NP_001337358.1:n.2356+20dup | |
| NM_001350430.1:c.1993+20dup | NP_001337359.1:n.1993+20dup | |
| NM_001350431.1:c.2674+20dup | NP_001337360.1:n.2674+20dup | |
| NM_001350432.1:c.1900+20dup | NP_001337361.1:n.1900+20dup | |
| NM_001350433.1:c.2665+20dup | NP_001337362.1:n.2665+20dup | |
| NM_001350434.1:c.2140+20dup | NP_001337363.1:n.2140+20dup | |
| NM_001350435.1:c.2527+20dup | NP_001337364.1:n.2527+20dup | |
| NM_001350436.1:c.2770+20dup | NP_001337365.1:n.2770+20dup | |
| NM_001350437.1:c.2521+20dup | NP_001337366.1:n.2521+20dup | |
| NM_001350438.1:c.2245+20dup | NP_001337367.1:n.2245+20dup | |
| NM_001350439.1:c.2509+20dup | NP_001337368.1:n.2509+20dup | |
| NM_001350440.1:c.1909+20dup | NP_001337369.1:n.1909+20dup | |
| NM_001350441.1:c.2506+20dup | NP_001337370.1:n.2506+20dup | |
| NM_001350442.1:c.2248+20dup | NP_001337371.1:n.2248+20dup | |
| NM_001350443.1:c.2479+20dup | NP_001337372.1:n.2479+20dup | |
| NM_001350444.1:c.2353+20dup | NP_001337373.1:n.2353+20dup | |
| NM_001350445.1:c.2146+20dup | NP_001337374.1:n.2146+20dup | |
| NM_001350446.1:c.2764+20dup | NP_001337375.1:n.2764+20dup | |
| NM_001350447.1:c.2425+20dup | NP_001337376.1:n.2425+20dup | |
| NM_001350448.1:c.2581+20dup | NP_001337377.1:n.2581+20dup | |
| NM_001350449.1:c.1972+20dup | NP_001337378.1:n.1972+20dup | |
| NM_001350450.1:c.1921+20dup | NP_001337379.1:n.1921+20dup | |
| NM_001350454.1:c.2488+20dup | NP_001337383.1:n.2488+20dup | |
| NM_001350455.1:c.1840+20dup | NP_001337384.1:n.1840+20dup | |
| NM_001350456.1:c.2761+20dup | NP_001337385.1:n.2761+20dup | |
| NM_001350457.1:c.2518+20dup | NP_001337386.1:n.2518+20dup | |
| NM_001350458.1:c.2587+20dup | NP_001337387.1:n.2587+20dup | |
| NM_001350459.1:c.2440+20dup | NP_001337388.1:n.2440+20dup | |
| NM_001350460.1:c.2458+20dup | NP_001337389.1:n.2458+20dup | |
| NM_001350461.1:c.2308+20dup | NP_001337390.1:n.2308+20dup | |
| NM_001350462.1:c.2623+20dup | NP_001337391.1:n.2623+20dup | |
| NM_001350463.1:c.2263+20dup | NP_001337392.1:n.2263+20dup | |
| NM_001350464.1:c.2266+20dup | NP_001337393.1:n.2266+20dup | |
| NM_001350465.1:c.1750+20dup | NP_001337394.1:n.1750+20dup | |
| NM_001350466.1:c.2269+20dup | NP_001337395.1:n.2269+20dup | |
| NM_001350467.1:c.2185+20dup | NP_001337396.1:n.2185+20dup | |
| NM_001350468.1:c.2110+20dup | NP_001337397.1:n.2110+20dup | |
| NM_001350469.1:c.2338+20dup | NP_001337398.1:n.2338+20dup | |
| NM_001350470.1:c.2026+20dup | NP_001337399.1:n.2026+20dup | |
| NM_001350471.1:c.2419+20dup | NP_001337400.1:n.2419+20dup | |
| NM_001350472.1:c.1945+20dup | NP_001337401.1:n.1945+20dup | |
| NM_001350473.1:c.1948+20dup | NP_001337402.1:n.1948+20dup | |
| NM_001350474.1:c.2311+20dup | NP_001337403.1:n.2311+20dup | |
| XM_005248688.4:c.4087+20dup | XP_005248745.1:n.4087+20dup | |
| XM_011535604.3:c.4156+20dup | XP_011533906.2:n.4156+20dup | |
| XM_017010516.2:c.4405+20dup | XP_016866005.1:n.4405+20dup | |
| XM_017010517.2:c.4312+20dup | XP_016866006.1:n.4312+20dup | |
| XM_017010518.2:c.4309+20dup | XP_016866007.1:n.4309+20dup | |
| XM_017010519.2:c.4252+20dup | XP_016866008.1:n.4252+20dup | |
| XM_017010520.2:c.4240+20dup | XP_016866009.1:n.4240+20dup | |
| XM_017010521.2:c.4222+20dup | XP_016866010.1:n.4222+20dup | |
| XM_017010522.2:c.4159+20dup | XP_016866011.1:n.4159+20dup | |
| XM_017010523.2:c.4132+20dup | XP_016866012.1:n.4132+20dup | |
| XM_017010524.2:c.4114+20dup | XP_016866013.1:n.4114+20dup | |
| XM_017010525.2:c.4099+20dup | XP_016866014.1:n.4099+20dup | |
| XM_017010526.2:c.4087+20dup | XP_016866015.1:n.4087+20dup | |
| XM_017010527.2:c.4084+20dup | XP_016866016.1:n.4084+20dup | |
| XM_017010537.2:c.2662+20dup | XP_016866026.1:n.2662+20dup | |
| XM_017010544.2:c.2506+20dup | XP_016866033.1:n.2506+20dup | |
| XM_017010546.2:c.2482+20dup | XP_016866035.1:n.2482+20dup | |
| XM_017010556.2:c.736+20dup | XP_016866045.1:n.736+20dup | |
| XM_017010557.2:c.568+20dup | XP_016866046.1:n.568+20dup | |
| XM_017010558.2:c.568+20dup | XP_016866047.1:n.568+20dup | |
| XM_024446369.1:c.4492+20dup | XP_024302137.1:n.4492+20dup | |
| XM_024446370.1:c.4129+20dup | XP_024302138.1:n.4129+20dup | |
| XM_024446371.1:c.4090+20dup | XP_024302139.1:n.4090+20dup | |
| XM_024446372.1:c.2659+20dup | XP_024302140.1:n.2659+20dup | |
| NM_001168407.2:c.2578+20dup | NP_001161879.1:n.2578+20dup | |
| NM_001168408.2:c.1993+20dup | NP_001161880.1:n.1993+20dup | |
| NM_001168409.2:c.1822+20dup | NP_001161881.1:n.1822+20dup | |
| NM_001168410.2:c.2020+20dup | NP_001161882.1:n.2020+20dup | |
| NM_001168411.2:c.199+20dup | NP_001161883.1:n.199+20dup | |
| NM_001350414.2:c.2539+20dup | NP_001337343.1:n.2539+20dup | |
| NM_001350415.2:c.2635+20dup | NP_001337344.1:n.2635+20dup | |
| NM_001350416.2:c.2584+20dup | NP_001337345.1:n.2584+20dup | |
| NM_001350417.2:c.2065+20dup | NP_001337346.1:n.2065+20dup | |
| NM_001350418.2:c.2557+20dup | NP_001337347.1:n.2557+20dup | |
| NM_001350419.2:c.1837+20dup | NP_001337348.1:n.1837+20dup | |
| NM_001350420.2:c.2692+20dup | NP_001337349.1:n.2692+20dup | |
| NM_001350421.2:c.2437+20dup | NP_001337350.1:n.2437+20dup | |
| NM_001350422.2:c.2062+20dup | NP_001337351.1:n.2062+20dup | |
| NM_001350423.2:c.2326+20dup | NP_001337352.1:n.2326+20dup | |
| NM_001350424.2:c.1924+20dup | NP_001337353.1:n.1924+20dup | |
| NM_001350425.2:c.2536+20dup | NP_001337354.1:n.2536+20dup | |
| NM_001350426.2:c.1912+20dup | NP_001337355.1:n.1912+20dup | |
| NM_001350427.2:c.1990+20dup | NP_001337356.1:n.1990+20dup | |
| NM_001350428.2:c.1996+20dup | NP_001337357.1:n.1996+20dup | |
| NM_001350429.2:c.2356+20dup | NP_001337358.1:n.2356+20dup | |
| NM_001350430.2:c.1993+20dup | NP_001337359.1:n.1993+20dup | |
| NM_001350431.2:c.2674+20dup | NP_001337360.1:n.2674+20dup | |
| NM_001350432.2:c.1900+20dup | NP_001337361.1:n.1900+20dup | |
| NM_001350433.2:c.2665+20dup | NP_001337362.1:n.2665+20dup | |
| NM_001350434.2:c.2140+20dup | NP_001337363.1:n.2140+20dup | |
| NM_001350435.2:c.2527+20dup | NP_001337364.1:n.2527+20dup | |
| NM_001350436.2:c.2770+20dup | NP_001337365.1:n.2770+20dup | |
| NM_001350437.2:c.2521+20dup | NP_001337366.1:n.2521+20dup | |
| NM_001350438.2:c.2245+20dup | NP_001337367.1:n.2245+20dup | |
| NM_001350439.2:c.2509+20dup | NP_001337368.1:n.2509+20dup | |
| NM_001350440.2:c.1909+20dup | NP_001337369.1:n.1909+20dup | |
| NM_001350441.2:c.2506+20dup | NP_001337370.1:n.2506+20dup | |
| NM_001350442.2:c.2248+20dup | NP_001337371.1:n.2248+20dup | |
| NM_001350443.2:c.2479+20dup | NP_001337372.1:n.2479+20dup | |
| NM_001350444.2:c.2353+20dup | NP_001337373.1:n.2353+20dup | |
| NM_001350445.2:c.2146+20dup | NP_001337374.1:n.2146+20dup | |
| NM_001350446.2:c.2764+20dup | NP_001337375.1:n.2764+20dup | |
| NM_001350447.2:c.2425+20dup | NP_001337376.1:n.2425+20dup | |
| NM_001350448.2:c.2581+20dup | NP_001337377.1:n.2581+20dup | |
| NM_001350449.2:c.1972+20dup | NP_001337378.1:n.1972+20dup | |
| NM_001350450.2:c.1921+20dup | NP_001337379.1:n.1921+20dup | |
| NM_001350454.2:c.2488+20dup | NP_001337383.1:n.2488+20dup | |
| NM_001350455.2:c.1840+20dup | NP_001337384.1:n.1840+20dup | |
| NM_001350456.2:c.2761+20dup | NP_001337385.1:n.2761+20dup | |
| NM_001350457.2:c.2518+20dup | NP_001337386.1:n.2518+20dup | |
| NM_001350458.2:c.2587+20dup | NP_001337387.1:n.2587+20dup | |
| NM_001350459.2:c.2440+20dup | NP_001337388.1:n.2440+20dup | |
| NM_001350460.2:c.2458+20dup | NP_001337389.1:n.2458+20dup | |
| NM_001350461.2:c.2308+20dup | NP_001337390.1:n.2308+20dup | |
| NM_001350462.2:c.2623+20dup | NP_001337391.1:n.2623+20dup | |
| NM_001350463.2:c.2263+20dup | NP_001337392.1:n.2263+20dup | |
| NM_001350464.2:c.2266+20dup | NP_001337393.1:n.2266+20dup | |
| NM_001350465.2:c.1750+20dup | NP_001337394.1:n.1750+20dup | |
| NM_001350466.2:c.2269+20dup | NP_001337395.1:n.2269+20dup | |
| NM_001350467.2:c.2185+20dup | NP_001337396.1:n.2185+20dup | |
| NM_001350468.2:c.2110+20dup | NP_001337397.1:n.2110+20dup | |
| NM_001350469.2:c.2338+20dup | NP_001337398.1:n.2338+20dup | |
| NM_001350470.2:c.2026+20dup | NP_001337399.1:n.2026+20dup | |
| NM_001350471.2:c.2419+20dup | NP_001337400.1:n.2419+20dup | |
| NM_001350472.2:c.1945+20dup | NP_001337401.1:n.1945+20dup | |
| NM_001350473.2:c.1948+20dup | NP_001337402.1:n.1948+20dup | |
| NM_001350474.2:c.2311+20dup | NP_001337403.1:n.2311+20dup | |
| NM_014989.7:c.4618+20dup MANE Select | NP_055804.2:n.4618+20dup |