Canonical Allele Identifier: CA2518731056

Gene: CSPP1

Linked Data

• gnomAD v4: 8-67158464-AAGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67158467_67158470del , CM000670.2:g.67158467_67158470del	GRCh38
NC_000008.10:g.68070702_68070705del , CM000670.1:g.68070702_68070705del	GRCh37
NC_000008.9:g.68233256_68233259del	NCBI36
NG_034100.1:g.99100_99103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262210.11:c.2328_2331del	ENSP00000262210.6:p.Glu777LysfsTer7
ENST00000521324.3:c.134_137del
ENST00000674993.1:c.2352_2355del	ENSP00000502454.1:p.Glu785LysfsTer7
ENST00000675306.2:c.1986_1989del	ENSP00000502421.1:p.Glu663LysfsTer7
ENST00000675869.1:c.2067_2070del	ENSP00000502747.1:p.Glu690LysfsTer7
ENST00000675955.1:c.2181_2184del	ENSP00000501676.1:p.Glu728LysfsTer7
ENST00000675990.1:n.3591_3594del
ENST00000676113.1:c.2220_2223del	ENSP00000501645.1:p.Glu741LysfsTer7
ENST00000676317.1:c.2247_2250del	ENSP00000502047.1:p.Glu750LysfsTer7
ENST00000676471.1:c.1995_1998del	ENSP00000503711.1:p.Glu666LysfsTer7
ENST00000676534.1:n.5188_5191del
ENST00000676567.1:c.*886_*889del	ENSP00000503427.1:n.*886_*889del
ENST00000676573.1:c.1563_1566del	ENSP00000504532.1:p.Glu522LysfsTer7
ENST00000676605.1:c.2370_2373del	ENSP00000503605.1:p.Glu791LysfsTer7
ENST00000676695.1:c.2188_2191del	ENSP00000503292.1:n.2188_2191del
ENST00000676697.1:n.3123_3126del
ENST00000676804.1:c.565_568del
ENST00000676847.1:c.2241_2244del	ENSP00000503336.1:p.Glu748LysfsTer7
ENST00000676858.1:c.*223_*226del	ENSP00000502925.1:n.*223_*226del
ENST00000676882.1:c.2148_2151del	ENSP00000504342.1:p.Glu717LysfsTer7
ENST00000676968.1:c.134_137del
ENST00000677009.1:c.2247_2250del	ENSP00000503297.1:p.Glu750LysfsTer7
ENST00000677052.1:n.1760_1763del
ENST00000677131.1:c.134_137del
ENST00000677256.1:c.*1981_*1984del	ENSP00000504102.1:n.*1981_*1984del
ENST00000677430.1:c.2181_2184del	ENSP00000504177.1:p.Glu728LysfsTer7
ENST00000677455.1:n.2135_2138del
ENST00000677473.1:c.*278_*281del	ENSP00000503534.1:n.*278_*281del
ENST00000677592.1:c.2229_2232del	ENSP00000504516.1:p.Glu744LysfsTer7
ENST00000677619.1:c.1608_1611del	ENSP00000504522.1:p.Glu537LysfsTer7
ENST00000677697.1:n.230_233del
ENST00000677845.1:c.*633_*636del	ENSP00000503524.1:n.*633_*636del
ENST00000677855.1:c.1570_1573del	ENSP00000504757.1:n.1570_1573del
ENST00000677964.1:c.134_137del
ENST00000678017.1:c.1113_1116del	ENSP00000504394.1:p.Glu372LysfsTer7
ENST00000678138.1:n.2425_2428del
ENST00000678156.1:n.1902_1905del
ENST00000678318.1:c.1797_1800del	ENSP00000503690.1:p.Glu600LysfsTer7
ENST00000678362.1:c.*1039_*1042del	ENSP00000504317.1:n.*1039_*1042del
ENST00000678542.1:c.2370_2373del	ENSP00000503878.1:p.Glu791LysfsTer7
ENST00000678616.1:c.2262_2265del MANE Select	ENSP00000504733.1:p.Glu755LysfsTer7
ENST00000678635.1:n.757_760del
ENST00000678645.1:c.2139_2142del	ENSP00000504031.1:p.Glu714LysfsTer7
ENST00000678723.1:c.134_137del
ENST00000678747.1:c.1689_1692del	ENSP00000503390.1:p.Glu564LysfsTer7
ENST00000678807.1:n.1297_1300del
ENST00000678895.1:c.134_137del
ENST00000679042.1:n.3087_3090del
ENST00000679112.1:c.*2161_*2164del	ENSP00000503739.1:n.*2161_*2164del
ENST00000679226.1:c.1986_1989del	ENSP00000503601.1:p.Glu663LysfsTer7
ENST00000679274.1:n.1186_1189del
ENST00000679295.1:n.1233_1236del
ENST00000262210.9:c.2247_2250del	ENSP00000262210.5:p.Glu750LysfsTer7
ENST00000519163.6:c.*2513_*2516del	ENSP00000428694.1:n.*2513_*2516del
ENST00000519668.1:c.1212_1215del	ENSP00000430092.1:p.Glu405LysfsTer7
ENST00000521168.5:n.252_255del
NM_001291339.1:c.1212_1215del	NP_001278268.1:p.Glu405LysfsTer7
NM_024790.6:c.2247_2250del	NP_079066.5:p.Glu750LysfsTer7
XM_005251305.3:c.2490_2493del	XP_005251362.2:p.Glu831LysfsTer7
XM_006716474.2:c.2337_2340del	XP_006716537.2:p.Glu780LysfsTer7
XM_006716477.2:c.1959_1962del	XP_006716540.2:p.Glu654LysfsTer7
XM_011517598.1:c.2532_2535del	XP_011515900.1:p.Glu845LysfsTer7
XM_011517599.1:c.2508_2511del	XP_011515901.1:p.Glu837LysfsTer7
XM_011517600.1:c.2466_2469del	XP_011515902.1:p.Glu823LysfsTer7
XM_011517601.1:c.2427_2430del	XP_011515903.1:p.Glu810LysfsTer7
XM_011517602.1:c.2385_2388del	XP_011515904.1:p.Glu796LysfsTer7
XM_011517603.1:c.2286_2289del	XP_011515905.1:p.Glu763LysfsTer7
XM_011517604.1:c.2286_2289del	XP_011515906.1:p.Glu763LysfsTer7
XM_011517605.1:c.2286_2289del	XP_011515907.1:p.Glu763LysfsTer7
XM_011517606.1:c.2262_2265del	XP_011515908.1:p.Glu755LysfsTer7
XM_011517607.1:c.2262_2265del	XP_011515909.1:p.Glu755LysfsTer7
XM_011517608.1:c.2181_2184del	XP_011515910.1:p.Glu728LysfsTer7
XM_011517609.1:c.1407_1410del	XP_011515911.1:p.Glu470LysfsTer7
XM_011517610.1:c.927_930del	XP_011515912.1:p.Glu310LysfsTer7
XM_011517611.1:c.567_570del	XP_011515913.1:p.Glu190LysfsTer7
NM_001363131.1:c.2181_2184del	NP_001350060.1:p.Glu728LysfsTer7
NM_001363132.1:c.2067_2070del	NP_001350061.1:p.Glu690LysfsTer7
NM_001363133.1:c.1986_1989del	NP_001350062.1:p.Glu663LysfsTer7
NM_001364869.1:c.2328_2331del	NP_001351798.1:p.Glu777LysfsTer7
NM_001364870.1:c.2148_2151del	NP_001351799.1:p.Glu717LysfsTer7
XM_005251305.4:c.2490_2493del	XP_005251362.2:p.Glu831LysfsTer7
XM_006716474.3:c.2337_2340del	XP_006716537.2:p.Glu780LysfsTer7
XM_006716477.3:c.1959_1962del	XP_006716540.2:p.Glu654LysfsTer7
XM_011517598.2:c.2532_2535del	XP_011515900.1:p.Glu845LysfsTer7
XM_011517599.2:c.2508_2511del	XP_011515901.1:p.Glu837LysfsTer7
XM_011517600.2:c.2466_2469del	XP_011515902.1:p.Glu823LysfsTer7
XM_011517601.2:c.2427_2430del	XP_011515903.1:p.Glu810LysfsTer7
XM_011517602.2:c.2385_2388del	XP_011515904.1:p.Glu796LysfsTer7
XM_011517603.2:c.2286_2289del	XP_011515905.1:p.Glu763LysfsTer7
XM_011517607.2:c.2262_2265del	XP_011515909.1:p.Glu755LysfsTer7
XM_011517609.2:c.1407_1410del	XP_011515911.1:p.Glu470LysfsTer7
XM_011517611.3:c.567_570del	XP_011515913.1:p.Glu190LysfsTer7
XM_017013847.2:c.2391_2394del	XP_016869336.1:p.Glu798LysfsTer7
XM_017013848.2:c.2367_2370del	XP_016869337.1:p.Glu790LysfsTer7
XM_017013849.2:c.2328_2331del	XP_016869338.1:p.Glu777LysfsTer7
XM_017013850.2:c.2286_2289del	XP_016869339.1:p.Glu763LysfsTer7
XM_017013851.2:c.2139_2142del	XP_016869340.1:p.Glu714LysfsTer7
XM_017013852.2:c.2133_2136del	XP_016869341.1:p.Glu712LysfsTer7
XM_017013854.2:c.1935_1938del	XP_016869343.1:p.Glu646LysfsTer7
XM_017013855.2:c.1701_1704del	XP_016869344.1:p.Glu568LysfsTer7
XM_017013856.2:c.1608_1611del	XP_016869345.1:p.Glu537LysfsTer7
XM_017013858.2:c.774_777del	XP_016869347.1:p.Glu259LysfsTer7
XM_024447278.1:c.2262_2265del	XP_024303046.1:p.Glu755LysfsTer7
XM_024447279.1:c.2181_2184del	XP_024303047.1:p.Glu728LysfsTer7
XM_024447281.1:c.1986_1989del	XP_024303049.1:p.Glu663LysfsTer7
XM_024447282.1:c.1689_1692del	XP_024303050.1:p.Glu564LysfsTer7
XM_024447283.1:c.1365_1368del	XP_024303051.1:p.Glu456LysfsTer7
XM_024447284.1:c.927_930del	XP_024303052.1:p.Glu310LysfsTer7
NM_001363131.2:c.2181_2184del	NP_001350060.1:p.Glu728LysfsTer7
NM_001363132.2:c.2067_2070del	NP_001350061.1:p.Glu690LysfsTer7
NM_001363133.2:c.1986_1989del	NP_001350062.1:p.Glu663LysfsTer7
NM_001291339.2:c.1212_1215del	NP_001278268.1:p.Glu405LysfsTer7
NM_001382391.1:c.2262_2265del MANE Select	NP_001369320.1:p.Glu755LysfsTer7