Canonical Allele Identifier: CA4771180
Community Standard Title: NM_001382391.1(CSPP1):c.3466dup (p.Thr1156AsnfsTer3)
Gene: CSPP1 HGNC NCBI
ARFGEF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67193599dup , CM000670.2:g.67193599dup GRCh38
NC_000008.10:g.68105834dup , CM000670.1:g.68105834dup GRCh37
NC_000008.9:g.68268388dup NCBI36
NG_034100.1:g.134232dup

Transcript Alleles

HGVS Amino-acid Change
NM_001382391.1:c.3466dup (CSPP1) MANE Select NP_001369320.1:p.Thr1156AsnfsTer3
ENST00000678616.1:c.3466dup (CSPP1) MANE Select ENSP00000504733.1:p.Thr1156AsnfsTer3
NM_001291339.1:c.2416dup (CSPP1) NP_001278268.1:p.Thr806AsnfsTer3
NM_001291339.2:c.2416dup (CSPP1) NP_001278268.1:p.Thr806AsnfsTer3
NM_001363131.1:c.3385dup (CSPP1) NP_001350060.1:p.Thr1129AsnfsTer3
NM_001363131.2:c.3385dup (CSPP1) NP_001350060.1:p.Thr1129AsnfsTer3
NM_001363132.1:c.3271dup (CSPP1) NP_001350061.1:p.Thr1091AsnfsTer3
NM_001363132.2:c.3271dup (CSPP1) NP_001350061.1:p.Thr1091AsnfsTer3
NM_001363133.1:c.3190dup (CSPP1) NP_001350062.1:p.Thr1064AsnfsTer3
NM_001363133.2:c.3190dup (CSPP1) NP_001350062.1:p.Thr1064AsnfsTer3
NM_001364869.1:c.3532dup (CSPP1) NP_001351798.1:p.Thr1178AsnfsTer3
NM_001364870.1:c.3352dup (CSPP1) NP_001351799.1:p.Thr1118AsnfsTer3
NM_024790.6:c.3451dup (CSPP1) NP_079066.5:p.Thr1151AsnfsTer3
ENST00000262210.11:c.3532dup (CSPP1) ENSP00000262210.6:p.Thr1178AsnfsTer3
ENST00000262210.9:c.3451dup (CSPP1) ENSP00000262210.5:p.Thr1151AsnfsTer3
ENST00000518789.5:c.560+6797dup (ARFGEF1)
ENST00000519668.1:c.2416dup (CSPP1) ENSP00000430092.1:p.Thr806AsnfsTer3
ENST00000520381.5:c.3820+6797dup (ARFGEF1)
ENST00000521168.5:n.1321-1783dup (CSPP1)
ENST00000521324.3:c.1534dup (CSPP1)
ENST00000674993.1:c.3556dup (CSPP1) ENSP00000502454.1:p.Thr1186AsnfsTer3
ENST00000675306.2:c.3190dup (CSPP1) ENSP00000502421.1:p.Thr1064AsnfsTer3
ENST00000675869.1:c.3271dup (CSPP1) ENSP00000502747.1:p.Thr1091AsnfsTer3
ENST00000675955.1:c.3385dup (CSPP1) ENSP00000501676.1:p.Thr1129AsnfsTer3
ENST00000675990.1:n.4795dup (CSPP1)
ENST00000676113.1:c.3424dup (CSPP1) ENSP00000501645.1:p.Thr1142AsnfsTer3
ENST00000676317.1:c.3451dup (CSPP1) ENSP00000502047.1:p.Thr1151AsnfsTer3
ENST00000676471.1:c.3199dup (CSPP1) ENSP00000503711.1:p.Thr1067AsnfsTer3
ENST00000676573.1:c.2767dup (CSPP1) ENSP00000504532.1:p.Thr923AsnfsTer3
ENST00000676605.1:c.3574dup (CSPP1) ENSP00000503605.1:p.Thr1192AsnfsTer3
ENST00000676804.1:c.1974dup (CSPP1)
ENST00000676847.1:c.3445dup (CSPP1) ENSP00000503336.1:p.Thr1149AsnfsTer3
ENST00000676858.1:c.*1427dup (CSPP1) ENSP00000502925.1:n.*1427dup
ENST00000676882.1:c.3352dup (CSPP1) ENSP00000504342.1:p.Thr1118AsnfsTer3
ENST00000676968.1:c.1513dup (CSPP1)
ENST00000676980.1:n.722dup (CSPP1)
ENST00000677009.1:c.3142-1783dup (CSPP1) ENSP00000503297.1:n.3142-1783dup
ENST00000677052.1:n.2964dup (CSPP1)
ENST00000677131.1:c.1458dup (CSPP1)
ENST00000677256.1:c.*3050-1783dup (CSPP1) ENSP00000504102.1:n.*3050-1783dup
ENST00000677430.1:c.*1058dup (CSPP1) ENSP00000504177.1:n.*1058dup
ENST00000677473.1:c.*1482dup (CSPP1) ENSP00000503534.1:n.*1482dup
ENST00000677538.1:n.848dup (CSPP1)
ENST00000677592.1:c.3433dup (CSPP1) ENSP00000504516.1:p.Thr1145AsnfsTer3
ENST00000677619.1:c.2812dup (CSPP1) ENSP00000504522.1:p.Thr938AsnfsTer3
ENST00000677697.1:n.1429dup (CSPP1)
ENST00000677845.1:c.*1837dup (CSPP1) ENSP00000503524.1:n.*1837dup
ENST00000677855.1:c.2774dup (CSPP1) ENSP00000504757.1:n.2774dup
ENST00000677938.1:n.2406dup (CSPP1)
ENST00000677964.1:c.1463dup (CSPP1)
ENST00000678017.1:c.2317dup (CSPP1) ENSP00000504394.1:p.Thr773AsnfsTer3
ENST00000678318.1:c.3001dup (CSPP1) ENSP00000503690.1:p.Thr1001AsnfsTer3
ENST00000678542.1:c.3574dup (CSPP1) ENSP00000503878.1:p.Thr1192AsnfsTer3
ENST00000678635.1:n.1961dup (CSPP1)
ENST00000678645.1:c.3343dup (CSPP1) ENSP00000504031.1:p.Thr1115AsnfsTer3
ENST00000678685.1:n.313dup (CSPP1)
ENST00000678723.1:c.1453dup (CSPP1)
ENST00000678747.1:c.2893dup (CSPP1) ENSP00000503390.1:p.Thr965AsnfsTer3
ENST00000678834.1:n.971dup (CSPP1)
ENST00000678895.1:c.1338dup (CSPP1)
ENST00000679112.1:c.*3365dup (CSPP1) ENSP00000503739.1:n.*3365dup
ENST00000679226.1:c.3079dup (CSPP1) ENSP00000503601.1:p.Thr1027AsnfsTer3
ENST00000679274.1:n.2390dup (CSPP1)
ENST00000679295.1:n.2437dup (CSPP1)
ENST00000679322.1:n.1510dup (CSPP1)
XM_005251136.2:c.5385+6797dup (ARFGEF1) XP_005251193.1:n.5385+6797dup
XM_005251136.4:c.5385+6797dup (ARFGEF1) XP_005251193.1:n.5385+6797dup
XM_005251305.3:c.3694dup (CSPP1) XP_005251362.2:p.Thr1232AsnfsTer3
XM_005251305.4:c.3694dup (CSPP1) XP_005251362.2:p.Thr1232AsnfsTer3
XM_006716474.2:c.3541dup (CSPP1) XP_006716537.2:p.Thr1181AsnfsTer3
XM_006716474.3:c.3541dup (CSPP1) XP_006716537.2:p.Thr1181AsnfsTer3
XM_006716477.2:c.3163dup (CSPP1) XP_006716540.2:p.Thr1055AsnfsTer3
XM_006716477.3:c.3163dup (CSPP1) XP_006716540.2:p.Thr1055AsnfsTer3
XM_011517598.1:c.3736dup (CSPP1) XP_011515900.1:p.Thr1246AsnfsTer3
XM_011517598.2:c.3736dup (CSPP1) XP_011515900.1:p.Thr1246AsnfsTer3
XM_011517599.1:c.3712dup (CSPP1) XP_011515901.1:p.Thr1238AsnfsTer3
XM_011517599.2:c.3712dup (CSPP1) XP_011515901.1:p.Thr1238AsnfsTer3
XM_011517600.1:c.3670dup (CSPP1) XP_011515902.1:p.Thr1224AsnfsTer3
XM_011517600.2:c.3670dup (CSPP1) XP_011515902.1:p.Thr1224AsnfsTer3
XM_011517601.1:c.3631dup (CSPP1) XP_011515903.1:p.Thr1211AsnfsTer3
XM_011517601.2:c.3631dup (CSPP1) XP_011515903.1:p.Thr1211AsnfsTer3
XM_011517602.1:c.3589dup (CSPP1) XP_011515904.1:p.Thr1197AsnfsTer3
XM_011517602.2:c.3589dup (CSPP1) XP_011515904.1:p.Thr1197AsnfsTer3
XM_011517603.1:c.3490dup (CSPP1) XP_011515905.1:p.Thr1164AsnfsTer3
XM_011517603.2:c.3490dup (CSPP1) XP_011515905.1:p.Thr1164AsnfsTer3
XM_011517604.1:c.3490dup (CSPP1) XP_011515906.1:p.Thr1164AsnfsTer3
XM_011517605.1:c.3490dup (CSPP1) XP_011515907.1:p.Thr1164AsnfsTer3
XM_011517606.1:c.3466dup (CSPP1) XP_011515908.1:p.Thr1156AsnfsTer3
XM_011517607.1:c.3466dup (CSPP1) XP_011515909.1:p.Thr1156AsnfsTer3
XM_011517607.2:c.3466dup (CSPP1) XP_011515909.1:p.Thr1156AsnfsTer3
XM_011517608.1:c.3385dup (CSPP1) XP_011515910.1:p.Thr1129AsnfsTer3
XM_011517609.1:c.2611dup (CSPP1) XP_011515911.1:p.Thr871AsnfsTer3
XM_011517609.2:c.2611dup (CSPP1) XP_011515911.1:p.Thr871AsnfsTer3
XM_011517610.1:c.2131dup (CSPP1) XP_011515912.1:p.Thr711AsnfsTer3
XM_011517611.1:c.1771dup (CSPP1) XP_011515913.1:p.Thr591AsnfsTer3
XM_011517611.3:c.1771dup (CSPP1) XP_011515913.1:p.Thr591AsnfsTer3
XM_017013847.2:c.3595dup (CSPP1) XP_016869336.1:p.Thr1199AsnfsTer3
XM_017013848.2:c.3571dup (CSPP1) XP_016869337.1:p.Thr1191AsnfsTer3
XM_017013849.2:c.3532dup (CSPP1) XP_016869338.1:p.Thr1178AsnfsTer3
XM_017013850.2:c.3490dup (CSPP1) XP_016869339.1:p.Thr1164AsnfsTer3
XM_017013851.2:c.3343dup (CSPP1) XP_016869340.1:p.Thr1115AsnfsTer3
XM_017013852.2:c.3337dup (CSPP1) XP_016869341.1:p.Thr1113AsnfsTer3
XM_017013854.2:c.3139dup (CSPP1) XP_016869343.1:p.Thr1047AsnfsTer3
XM_017013855.2:c.2905dup (CSPP1) XP_016869344.1:p.Thr969AsnfsTer3
XM_017013856.2:c.2812dup (CSPP1) XP_016869345.1:p.Thr938AsnfsTer3
XM_017013858.2:c.1978dup (CSPP1) XP_016869347.1:p.Thr660AsnfsTer3
XM_024447278.1:c.3466dup (CSPP1) XP_024303046.1:p.Thr1156AsnfsTer3
XM_024447279.1:c.3385dup (CSPP1) XP_024303047.1:p.Thr1129AsnfsTer3
XM_024447281.1:c.3190dup (CSPP1) XP_024303049.1:p.Thr1064AsnfsTer3
XM_024447282.1:c.2893dup (CSPP1) XP_024303050.1:p.Thr965AsnfsTer3
XM_024447283.1:c.2569dup (CSPP1) XP_024303051.1:p.Thr857AsnfsTer3
XM_024447284.1:c.2131dup (CSPP1) XP_024303052.1:p.Thr711AsnfsTer3