Canonical Allele Identifier: CA2606658
Community Standard Title: NM_052989.3(IFT122):c.2792-14G>A
Gene: IFT122 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129507654G>A , CM000665.2:g.129507654G>A GRCh38
NC_000003.11:g.129226497G>A , CM000665.1:g.129226497G>A GRCh37
NC_000003.10:g.130709187G>A NCBI36
NG_023392.1:g.72530G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052989.3:c.2792-14G>A MANE Select NP_443715.1:n.2792-14G>A
ENST00000348417.7:c.2792-14G>A MANE Select ENSP00000324005.4:n.2792-14G>A
NM_001280541.1:c.2768-11G>A NP_001267470.1:n.2768-11G>A
NM_001280541.2:c.2768-11G>A NP_001267470.1:n.2768-11G>A
NM_001280545.1:c.2342-14G>A NP_001267474.1:n.2342-14G>A
NM_001280545.2:c.2342-14G>A NP_001267474.1:n.2342-14G>A
NM_001280546.1:c.2165-14G>A NP_001267475.1:n.2165-14G>A
NM_001280546.2:c.2165-14G>A NP_001267475.1:n.2165-14G>A
NM_018262.3:c.2615-14G>A NP_060732.2:n.2615-14G>A
NM_018262.4:c.2615-14G>A NP_060732.2:n.2615-14G>A
NM_052985.3:c.2945-14G>A NP_443711.2:n.2945-14G>A
NM_052985.4:c.2945-14G>A NP_443711.2:n.2945-14G>A
NM_052989.2:c.2792-14G>A NP_443715.1:n.2792-14G>A
NM_052990.2:c.2459-11G>A NP_443716.1:n.2459-11G>A
NM_052990.3:c.2459-11G>A NP_443716.1:n.2459-11G>A
ENST00000296266.7:c.2945-14G>A ENSP00000296266.3:n.2945-14G>A
ENST00000347300.6:c.2615-14G>A ENSP00000323973.3:n.2615-14G>A
ENST00000348417.6:c.2792-14G>A ENSP00000324005.3:n.2792-14G>A
ENST00000349441.6:c.2459-11G>A ENSP00000324165.3:n.2459-11G>A
ENST00000431818.6:c.2342-14G>A ENSP00000410946.2:n.2342-14G>A
ENST00000431818.8:c.*2051-11G>A ENSP00000410946.3:n.*2051-11G>A
ENST00000440957.6:c.2165-14G>A ENSP00000401569.2:n.2165-14G>A
ENST00000440957.7:c.*2113-14G>A ENSP00000401569.3:n.*2113-14G>A
ENST00000504021.5:c.2420-11G>A ENSP00000422179.1:n.2420-11G>A
ENST00000504021.6:c.2405-11G>A ENSP00000422179.2:n.2405-11G>A
ENST00000504444.2:n.802-14G>A
ENST00000506507.5:n.2575-14G>A
ENST00000507221.2:c.878-14G>A ENSP00000427515.2:n.878-14G>A
ENST00000507564.5:c.2768-11G>A ENSP00000425536.1:n.2768-11G>A
ENST00000511425.5:n.1201-14G>A
ENST00000512220.5:c.*2700-14G>A ENSP00000421953.1:n.*2700-14G>A
ENST00000513932.2:n.1082-11G>A
ENST00000515783.6:c.2297-14G>A ENSP00000423288.2:n.2297-14G>A
ENST00000685087.1:c.2348-11G>A ENSP00000509245.1:n.2348-11G>A
ENST00000685122.1:c.878-11G>A ENSP00000510278.1:n.878-11G>A
ENST00000685189.1:c.*2523-14G>A ENSP00000510418.1:n.*2523-14G>A
ENST00000685282.1:c.*7-11G>A ENSP00000508642.1:n.*7-11G>A
ENST00000685447.1:c.*6+1105G>A ENSP00000509155.1:n.*6+1105G>A
ENST00000685512.1:n.3507-14G>A
ENST00000685621.1:n.2363G>A
ENST00000685811.1:n.3530-11G>A
ENST00000685921.1:c.2504-14G>A ENSP00000509914.1:n.2504-14G>A
ENST00000685939.1:c.*1212-14G>A ENSP00000509414.1:n.*1212-14G>A
ENST00000686375.1:c.*1212-11G>A ENSP00000510777.1:n.*1212-11G>A
ENST00000686473.1:c.2450-14G>A ENSP00000508526.1:n.2450-14G>A
ENST00000686531.1:c.2396-14G>A ENSP00000510570.1:n.2396-14G>A
ENST00000686614.1:n.1339-14G>A
ENST00000686830.1:c.2453-14G>A ENSP00000510002.1:n.2453-14G>A
ENST00000687377.1:c.2738-11G>A ENSP00000509225.1:n.2738-11G>A
ENST00000687398.1:c.*2250-14G>A ENSP00000510191.1:n.*2250-14G>A
ENST00000687461.1:n.3154-14G>A
ENST00000687645.1:c.2792-14G>A ENSP00000510672.1:n.2792-14G>A
ENST00000687766.1:c.*384-14G>A ENSP00000509886.1:n.*384-14G>A
ENST00000687791.1:c.2560+1105G>A ENSP00000509224.1:n.2560+1105G>A
ENST00000687845.1:c.2302-14G>A ENSP00000508687.1:n.2302-14G>A
ENST00000687864.1:n.2812-14G>A
ENST00000688020.1:c.2636-14G>A ENSP00000508904.1:n.2636-14G>A
ENST00000688129.1:c.*2394-14G>A ENSP00000509382.1:n.*2394-14G>A
ENST00000688266.1:n.2399+1105G>A
ENST00000688392.1:n.3203-11G>A
ENST00000688504.1:n.2758-14G>A
ENST00000688527.1:c.932-11G>A ENSP00000508740.1:n.932-11G>A
ENST00000688657.1:c.770-14G>A ENSP00000508933.1:n.770-14G>A
ENST00000688664.1:c.*2040-14G>A ENSP00000510359.1:n.*2040-14G>A
ENST00000689005.1:c.2312-11G>A ENSP00000510168.1:n.2312-11G>A
ENST00000689313.1:c.2768-14G>A ENSP00000509012.1:n.2768-14G>A
ENST00000689332.1:c.2615-11G>A ENSP00000510425.1:n.2615-11G>A
ENST00000689384.1:n.3359-14G>A
ENST00000689492.1:c.2468-14G>A ENSP00000510239.1:n.2468-14G>A
ENST00000689643.1:c.2792-14G>A ENSP00000509801.1:n.2792-14G>A
ENST00000689796.1:c.2453-11G>A ENSP00000509716.1:n.2453-11G>A
ENST00000689801.1:c.2561-11G>A ENSP00000509982.1:n.2561-11G>A
ENST00000689871.1:c.2561-11G>A ENSP00000510412.1:n.2561-11G>A
ENST00000689884.1:n.1776-11G>A
ENST00000690209.1:c.2615-11G>A ENSP00000509005.1:n.2615-11G>A
ENST00000690617.1:n.2729-14G>A
ENST00000690657.1:c.932-14G>A ENSP00000510699.1:n.932-14G>A
ENST00000690663.1:c.2405-14G>A ENSP00000509297.1:n.2405-14G>A
ENST00000690677.1:c.*2071-11G>A ENSP00000510036.1:n.*2071-11G>A
ENST00000690723.1:c.2614+1105G>A ENSP00000508811.1:n.2614+1105G>A
ENST00000690862.1:c.2561-14G>A ENSP00000509210.1:n.2561-14G>A
ENST00000691148.1:n.3259-14G>A
ENST00000691360.1:c.*2218-14G>A ENSP00000510040.1:n.*2218-14G>A
ENST00000691583.1:c.2561-14G>A ENSP00000510741.1:n.2561-14G>A
ENST00000691641.1:c.*2340-14G>A ENSP00000509350.1:n.*2340-14G>A
ENST00000691705.1:c.2615-14G>A ENSP00000510077.1:n.2615-14G>A
ENST00000691733.1:c.2615-14G>A ENSP00000509735.1:n.2615-14G>A
ENST00000691770.1:c.*144-14G>A ENSP00000510126.1:n.*144-14G>A
ENST00000691964.1:c.2561-14G>A ENSP00000509094.1:n.2561-14G>A
ENST00000692228.1:c.*1689-14G>A ENSP00000508464.1:n.*1689-14G>A
ENST00000692242.1:c.2792-11G>A ENSP00000509878.1:n.2792-11G>A
ENST00000692321.1:c.2111-14G>A ENSP00000508614.1:n.2111-14G>A
ENST00000692391.1:c.2734-14G>A ENSP00000509211.1:n.2734-14G>A
ENST00000692508.1:n.3439-14G>A
ENST00000692728.1:c.2111-14G>A ENSP00000510105.1:n.2111-14G>A
ENST00000692901.1:c.2384-14G>A ENSP00000510339.1:n.2384-14G>A
ENST00000692929.1:n.1646-14G>A
ENST00000692985.1:c.*2426+1105G>A ENSP00000510460.1:n.*2426+1105G>A
ENST00000693114.1:c.*1626-11G>A ENSP00000508738.1:n.*1626-11G>A
ENST00000693129.1:c.2738-14G>A ENSP00000509806.1:n.2738-14G>A
ENST00000693162.1:c.2734-11G>A ENSP00000509103.1:n.2734-11G>A
ENST00000693233.1:c.2165-14G>A ENSP00000509186.1:n.2165-14G>A
ENST00000693489.1:c.2729-14G>A ENSP00000509656.1:n.2729-14G>A
ENST00000693588.1:c.2459-14G>A ENSP00000509216.1:n.2459-14G>A
ENST00000693654.1:n.3029-14G>A
XM_005247609.1:c.2615-11G>A XP_005247666.1:n.2615-11G>A
XM_005247609.2:c.2615-11G>A XP_005247666.1:n.2615-11G>A
XM_006713689.1:c.2792-11G>A XP_006713752.1:n.2792-11G>A
XM_006713689.2:c.2792-11G>A XP_006713752.1:n.2792-11G>A
XM_006713691.2:c.2738-11G>A XP_006713754.1:n.2738-11G>A
XM_006713691.3:c.2738-11G>A XP_006713754.1:n.2738-11G>A
XM_006713692.2:c.2561-11G>A XP_006713755.1:n.2561-11G>A
XM_006713692.3:c.2561-11G>A XP_006713755.1:n.2561-11G>A
XM_011512967.1:c.2636-11G>A XP_011511269.1:n.2636-11G>A
XM_011512968.1:c.2342-11G>A XP_011511270.1:n.2342-11G>A
XM_011512969.1:c.2342-11G>A XP_011511271.1:n.2342-11G>A
XM_011512970.1:c.2342-11G>A XP_011511272.1:n.2342-11G>A
XM_011512971.1:c.2165-11G>A XP_011511273.1:n.2165-11G>A
XM_011512973.1:c.1388-11G>A XP_011511275.1:n.1388-11G>A
XM_017006817.2:c.2792-11G>A XP_016862306.1:n.2792-11G>A
XM_017006818.2:c.2792-14G>A XP_016862307.1:n.2792-14G>A
XM_017006819.2:c.2738-11G>A XP_016862308.1:n.2738-11G>A
XM_017006820.2:c.2738-14G>A XP_016862309.1:n.2738-14G>A
XM_017006821.2:c.2738-14G>A XP_016862310.1:n.2738-14G>A
XM_017006822.2:c.2636-11G>A XP_016862311.1:n.2636-11G>A
XM_017006823.2:c.2615-11G>A XP_016862312.1:n.2615-11G>A
XM_017006824.2:c.2615-14G>A XP_016862313.1:n.2615-14G>A
XM_017006825.2:c.2561-11G>A XP_016862314.1:n.2561-11G>A
XM_017006826.2:c.2561-14G>A XP_016862315.1:n.2561-14G>A
XM_017006827.2:c.2561-14G>A XP_016862316.1:n.2561-14G>A
XM_017006828.2:c.2459-11G>A XP_016862317.1:n.2459-11G>A
XM_017006829.2:c.2459-14G>A XP_016862318.1:n.2459-14G>A
XM_017006830.2:c.2342-11G>A XP_016862319.1:n.2342-11G>A
XM_017006831.1:c.2342-11G>A XP_016862320.1:n.2342-11G>A
XM_017006832.1:c.2342-11G>A XP_016862321.1:n.2342-11G>A
XM_017006833.2:c.2405-11G>A XP_016862322.1:n.2405-11G>A
XM_017006834.2:c.2405-14G>A XP_016862323.1:n.2405-14G>A
XM_017006835.1:c.2165-11G>A XP_016862324.1:n.2165-11G>A
XM_017006836.2:c.2111-11G>A XP_016862325.1:n.2111-11G>A
XM_017006837.1:c.1388-11G>A XP_016862326.1:n.1388-11G>A
XM_017006838.2:c.1388-14G>A XP_016862327.1:n.1388-14G>A
XM_024453639.1:c.1835-11G>A XP_024309407.1:n.1835-11G>A