Canonical Allele Identifier: CA582502504

Gene: CSPP1

Linked Data

• dbSNP Id: rs1350571460
• gnomAD v2: 8-68070699-AAG-A
• gnomAD v3: 8-67158464-AAG-A
• gnomAD v4: 8-67158464-AAG-A
• MyVariant Identifiers: chr8:g.68070700_68070701del (hg19) ; chr8:g.67158465_67158466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67158469_67158470del , CM000670.2:g.67158469_67158470del	GRCh38
NC_000008.10:g.68070704_68070705del , CM000670.1:g.68070704_68070705del	GRCh37
NC_000008.9:g.68233258_68233259del	NCBI36
NG_034100.1:g.99102_99103del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262210.11:c.2330_2331del	ENSP00000262210.6:p.Glu777GlyfsTer30
ENST00000521324.3:c.136_137del
ENST00000674993.1:c.2354_2355del	ENSP00000502454.1:p.Glu785GlyfsTer30
ENST00000675306.2:c.1988_1989del	ENSP00000502421.1:p.Glu663GlyfsTer30
ENST00000675869.1:c.2069_2070del	ENSP00000502747.1:p.Glu690GlyfsTer30
ENST00000675955.1:c.2183_2184del	ENSP00000501676.1:p.Glu728GlyfsTer30
ENST00000675990.1:n.3593_3594del
ENST00000676113.1:c.2222_2223del	ENSP00000501645.1:p.Glu741GlyfsTer30
ENST00000676317.1:c.2249_2250del	ENSP00000502047.1:p.Glu750GlyfsTer30
ENST00000676471.1:c.1997_1998del	ENSP00000503711.1:p.Glu666GlyfsTer30
ENST00000676534.1:n.5190_5191del
ENST00000676567.1:c.*888_*889del	ENSP00000503427.1:n.*888_*889del
ENST00000676573.1:c.1565_1566del	ENSP00000504532.1:p.Glu522GlyfsTer30
ENST00000676605.1:c.2372_2373del	ENSP00000503605.1:p.Glu791GlyfsTer30
ENST00000676695.1:c.2190_2191del	ENSP00000503292.1:n.2190_2191del
ENST00000676697.1:n.3125_3126del
ENST00000676804.1:c.567_568del
ENST00000676847.1:c.2243_2244del	ENSP00000503336.1:p.Glu748GlyfsTer30
ENST00000676858.1:c.*225_*226del	ENSP00000502925.1:n.*225_*226del
ENST00000676882.1:c.2150_2151del	ENSP00000504342.1:p.Glu717GlyfsTer30
ENST00000676968.1:c.136_137del
ENST00000677009.1:c.2249_2250del	ENSP00000503297.1:p.Glu750GlyfsTer30
ENST00000677052.1:n.1762_1763del
ENST00000677131.1:c.136_137del
ENST00000677256.1:c.*1983_*1984del	ENSP00000504102.1:n.*1983_*1984del
ENST00000677430.1:c.2183_2184del	ENSP00000504177.1:p.Glu728GlyfsTer30
ENST00000677455.1:n.2137_2138del
ENST00000677473.1:c.*280_*281del	ENSP00000503534.1:n.*280_*281del
ENST00000677592.1:c.2231_2232del	ENSP00000504516.1:p.Glu744GlyfsTer30
ENST00000677619.1:c.1610_1611del	ENSP00000504522.1:p.Glu537GlyfsTer30
ENST00000677697.1:n.232_233del
ENST00000677845.1:c.*635_*636del	ENSP00000503524.1:n.*635_*636del
ENST00000677855.1:c.1572_1573del	ENSP00000504757.1:n.1572_1573del
ENST00000677964.1:c.136_137del
ENST00000678017.1:c.1115_1116del	ENSP00000504394.1:p.Glu372GlyfsTer30
ENST00000678138.1:n.2427_2428del
ENST00000678156.1:n.1904_1905del
ENST00000678318.1:c.1799_1800del	ENSP00000503690.1:p.Glu600GlyfsTer30
ENST00000678362.1:c.*1041_*1042del	ENSP00000504317.1:n.*1041_*1042del
ENST00000678542.1:c.2372_2373del	ENSP00000503878.1:p.Glu791GlyfsTer30
ENST00000678616.1:c.2264_2265del MANE Select	ENSP00000504733.1:p.Glu755GlyfsTer30
ENST00000678635.1:n.759_760del
ENST00000678645.1:c.2141_2142del	ENSP00000504031.1:p.Glu714GlyfsTer30
ENST00000678723.1:c.136_137del
ENST00000678747.1:c.1691_1692del	ENSP00000503390.1:p.Glu564GlyfsTer30
ENST00000678807.1:n.1299_1300del
ENST00000678895.1:c.136_137del
ENST00000679042.1:n.3089_3090del
ENST00000679112.1:c.*2163_*2164del	ENSP00000503739.1:n.*2163_*2164del
ENST00000679226.1:c.1988_1989del	ENSP00000503601.1:p.Glu663GlyfsTer30
ENST00000679274.1:n.1188_1189del
ENST00000679295.1:n.1235_1236del
ENST00000262210.9:c.2249_2250del	ENSP00000262210.5:p.Glu750GlyfsTer30
ENST00000519163.6:c.*2515_*2516del	ENSP00000428694.1:n.*2515_*2516del
ENST00000519668.1:c.1214_1215del	ENSP00000430092.1:p.Glu405GlyfsTer30
ENST00000521168.5:n.254_255del
NM_001291339.1:c.1214_1215del	NP_001278268.1:p.Glu405GlyfsTer30
NM_024790.6:c.2249_2250del	NP_079066.5:p.Glu750GlyfsTer30
XM_005251305.3:c.2492_2493del	XP_005251362.2:p.Glu831GlyfsTer30
XM_006716474.2:c.2339_2340del	XP_006716537.2:p.Glu780GlyfsTer30
XM_006716477.2:c.1961_1962del	XP_006716540.2:p.Glu654GlyfsTer30
XM_011517598.1:c.2534_2535del	XP_011515900.1:p.Glu845GlyfsTer30
XM_011517599.1:c.2510_2511del	XP_011515901.1:p.Glu837GlyfsTer30
XM_011517600.1:c.2468_2469del	XP_011515902.1:p.Glu823GlyfsTer30
XM_011517601.1:c.2429_2430del	XP_011515903.1:p.Glu810GlyfsTer30
XM_011517602.1:c.2387_2388del	XP_011515904.1:p.Glu796GlyfsTer30
XM_011517603.1:c.2288_2289del	XP_011515905.1:p.Glu763GlyfsTer30
XM_011517604.1:c.2288_2289del	XP_011515906.1:p.Glu763GlyfsTer30
XM_011517605.1:c.2288_2289del	XP_011515907.1:p.Glu763GlyfsTer30
XM_011517606.1:c.2264_2265del	XP_011515908.1:p.Glu755GlyfsTer30
XM_011517607.1:c.2264_2265del	XP_011515909.1:p.Glu755GlyfsTer30
XM_011517608.1:c.2183_2184del	XP_011515910.1:p.Glu728GlyfsTer30
XM_011517609.1:c.1409_1410del	XP_011515911.1:p.Glu470GlyfsTer30
XM_011517610.1:c.929_930del	XP_011515912.1:p.Glu310GlyfsTer30
XM_011517611.1:c.569_570del	XP_011515913.1:p.Glu190GlyfsTer30
NM_001363131.1:c.2183_2184del	NP_001350060.1:p.Glu728GlyfsTer30
NM_001363132.1:c.2069_2070del	NP_001350061.1:p.Glu690GlyfsTer30
NM_001363133.1:c.1988_1989del	NP_001350062.1:p.Glu663GlyfsTer30
NM_001364869.1:c.2330_2331del	NP_001351798.1:p.Glu777GlyfsTer30
NM_001364870.1:c.2150_2151del	NP_001351799.1:p.Glu717GlyfsTer30
XM_005251305.4:c.2492_2493del	XP_005251362.2:p.Glu831GlyfsTer30
XM_006716474.3:c.2339_2340del	XP_006716537.2:p.Glu780GlyfsTer30
XM_006716477.3:c.1961_1962del	XP_006716540.2:p.Glu654GlyfsTer30
XM_011517598.2:c.2534_2535del	XP_011515900.1:p.Glu845GlyfsTer30
XM_011517599.2:c.2510_2511del	XP_011515901.1:p.Glu837GlyfsTer30
XM_011517600.2:c.2468_2469del	XP_011515902.1:p.Glu823GlyfsTer30
XM_011517601.2:c.2429_2430del	XP_011515903.1:p.Glu810GlyfsTer30
XM_011517602.2:c.2387_2388del	XP_011515904.1:p.Glu796GlyfsTer30
XM_011517603.2:c.2288_2289del	XP_011515905.1:p.Glu763GlyfsTer30
XM_011517607.2:c.2264_2265del	XP_011515909.1:p.Glu755GlyfsTer30
XM_011517609.2:c.1409_1410del	XP_011515911.1:p.Glu470GlyfsTer30
XM_011517611.3:c.569_570del	XP_011515913.1:p.Glu190GlyfsTer30
XM_017013847.2:c.2393_2394del	XP_016869336.1:p.Glu798GlyfsTer30
XM_017013848.2:c.2369_2370del	XP_016869337.1:p.Glu790GlyfsTer30
XM_017013849.2:c.2330_2331del	XP_016869338.1:p.Glu777GlyfsTer30
XM_017013850.2:c.2288_2289del	XP_016869339.1:p.Glu763GlyfsTer30
XM_017013851.2:c.2141_2142del	XP_016869340.1:p.Glu714GlyfsTer30
XM_017013852.2:c.2135_2136del	XP_016869341.1:p.Glu712GlyfsTer30
XM_017013854.2:c.1937_1938del	XP_016869343.1:p.Glu646GlyfsTer30
XM_017013855.2:c.1703_1704del	XP_016869344.1:p.Glu568GlyfsTer30
XM_017013856.2:c.1610_1611del	XP_016869345.1:p.Glu537GlyfsTer30
XM_017013858.2:c.776_777del	XP_016869347.1:p.Glu259GlyfsTer30
XM_024447278.1:c.2264_2265del	XP_024303046.1:p.Glu755GlyfsTer30
XM_024447279.1:c.2183_2184del	XP_024303047.1:p.Glu728GlyfsTer30
XM_024447281.1:c.1988_1989del	XP_024303049.1:p.Glu663GlyfsTer30
XM_024447282.1:c.1691_1692del	XP_024303050.1:p.Glu564GlyfsTer30
XM_024447283.1:c.1367_1368del	XP_024303051.1:p.Glu456GlyfsTer30
XM_024447284.1:c.929_930del	XP_024303052.1:p.Glu310GlyfsTer30
NM_001363131.2:c.2183_2184del	NP_001350060.1:p.Glu728GlyfsTer30
NM_001363132.2:c.2069_2070del	NP_001350061.1:p.Glu690GlyfsTer30
NM_001363133.2:c.1988_1989del	NP_001350062.1:p.Glu663GlyfsTer30
NM_001291339.2:c.1214_1215del	NP_001278268.1:p.Glu405GlyfsTer30
NM_001382391.1:c.2264_2265del MANE Select	NP_001369320.1:p.Glu755GlyfsTer30