Canonical Allele Identifier: CA2701327431

Gene: CASP8

Linked Data

• dbSNP Id: rs757126263

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201277020_201277023del , CM000664.2:g.201277020_201277023del	GRCh38
NC_000002.11:g.202141743_202141746del , CM000664.1:g.202141743_202141746del	GRCh37
NC_000002.10:g.201849988_201849991del	NCBI36
NG_007497.1:g.48563_48566del , LRG_34:g.48563_48566del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413726.6:c.802+52_802+55del	ENSP00000397528.2:n.802+52_802+55del
ENST00000440732.6:c.802+52_802+55del	ENSP00000396869.2:n.802+52_802+55del
ENST00000444430.3:c.550+4244_550+4247del	ENSP00000394434.3:n.550+4244_550+4247del
ENST00000447616.6:c.*29+52_*29+55del	ENSP00000388306.2:n.*29+52_*29+55del
ENST00000450491.6:c.448+52_448+55del	ENSP00000391709.2:n.448+52_448+55del
ENST00000696067.1:c.802+52_802+55del	ENSP00000512369.1:n.802+52_802+55del
ENST00000696068.1:c.*29+52_*29+55del	ENSP00000512370.1:n.*29+52_*29+55del
ENST00000696069.1:c.757+52_757+55del	ENSP00000512371.1:n.757+52_757+55del
ENST00000696085.1:c.934+52_934+55del	ENSP00000512381.1:n.934+52_934+55del
ENST00000696087.1:c.757+52_757+55del	ENSP00000512382.1:n.757+52_757+55del
ENST00000673742.1:c.802+52_802+55del MANE Select	ENSP00000501268.1:n.802+52_802+55del
ENST00000264274.13:c.550+4244_550+4247del	ENSP00000264274.9:n.550+4244_550+4247del
ENST00000264275.9:c.853+52_853+55del	ENSP00000264275.5:n.853+52_853+55del
ENST00000323492.11:c.757+52_757+55del	ENSP00000325722.7:n.757+52_757+55del
ENST00000339403.6:n.939_942del
ENST00000358485.8:c.979+52_979+55del	ENSP00000351273.4:n.979+52_979+55del
ENST00000392258.7:c.*29+52_*29+55del	ENSP00000376087.3:n.*29+52_*29+55del
ENST00000392263.6:c.757+52_757+55del	ENSP00000376091.2:n.757+52_757+55del
ENST00000392266.7:c.758+51_758+54del	ENSP00000376094.4:n.758+51_758+54del
ENST00000424461.5:c.281+52_281+55del	ENSP00000390346.1:n.281+52_281+55del
ENST00000432109.6:c.802+52_802+55del	ENSP00000412523.2:n.802+52_802+55del
ENST00000444430.2:c.139+4244_139+4247del	ENSP00000394434.2:n.139+4244_139+4247del
NM_001080124.1:c.757+52_757+55del	NP_001073593.1:n.757+52_757+55del
NM_001080125.1:c.979+52_979+55del	NP_001073594.1:n.979+52_979+55del
NM_001228.4:c.853+52_853+55del , LRG_34t1:c.853+52_853+55del	NP_001219.2:n.853+52_853+55del
NM_033355.3:c.802+52_802+55del , LRG_34t2:c.802+52_802+55del	NP_203519.1:n.802+52_802+55del
NM_033356.3:c.757+52_757+55del	NP_203520.1:n.757+52_757+55del
NM_033358.3:c.*29+52_*29+55del	NP_203522.1:n.*29+52_*29+55del
NR_111983.1:n.1232_1235del
XM_005246885.1:c.934+52_934+55del	XP_005246942.1:n.934+52_934+55del
XM_005246886.1:c.802+52_802+55del	XP_005246943.1:n.802+52_802+55del
XM_005246887.1:c.802+52_802+55del	XP_005246944.1:n.802+52_802+55del
XM_005246888.1:c.802+52_802+55del	XP_005246945.1:n.802+52_802+55del
XM_005246889.1:c.802+52_802+55del	XP_005246946.1:n.802+52_802+55del
XM_005246890.2:c.802+52_802+55del	XP_005246947.1:n.802+52_802+55del
XM_005246891.3:c.802+52_802+55del	XP_005246948.1:n.802+52_802+55del
XM_005246892.1:c.757+52_757+55del	XP_005246949.1:n.757+52_757+55del
XM_005246893.2:c.*29+52_*29+55del	XP_005246950.1:n.*29+52_*29+55del
XM_005246894.2:c.205+52_205+55del	XP_005246951.1:n.205+52_205+55del
XM_005246895.2:c.*29+52_*29+55del	XP_005246952.1:n.*29+52_*29+55del
XM_006712789.1:c.802+52_802+55del	XP_006712852.1:n.802+52_802+55del
XM_006712790.2:c.802+52_802+55del	XP_006712853.1:n.802+52_802+55del
XM_006712791.1:c.727+4244_727+4247del	XP_006712854.1:n.727+4244_727+4247del
XM_006712793.2:c.*29+52_*29+55del	XP_006712856.1:n.*29+52_*29+55del
XM_011511968.1:c.979+52_979+55del	XP_011510270.1:n.979+52_979+55del
XM_011511969.1:c.367+52_367+55del	XP_011510271.1:n.367+52_367+55del
XM_011511970.1:c.*29+52_*29+55del	XP_011510272.1:n.*29+52_*29+55del
XR_923035.1:n.987_990del
XM_005246885.2:c.934+52_934+55del	XP_005246942.1:n.934+52_934+55del
XM_005246886.2:c.802+52_802+55del	XP_005246943.1:n.802+52_802+55del
XM_005246887.2:c.802+52_802+55del	XP_005246944.1:n.802+52_802+55del
XM_005246888.2:c.802+52_802+55del	XP_005246945.1:n.802+52_802+55del
XM_005246889.2:c.802+52_802+55del	XP_005246946.1:n.802+52_802+55del
XM_005246890.4:c.802+52_802+55del	XP_005246947.1:n.802+52_802+55del
XM_005246891.5:c.802+52_802+55del	XP_005246948.1:n.802+52_802+55del
XM_005246892.2:c.757+52_757+55del	XP_005246949.1:n.757+52_757+55del
XM_005246893.3:c.*29+52_*29+55del	XP_005246950.1:n.*29+52_*29+55del
XM_005246894.4:c.205+52_205+55del	XP_005246951.1:n.205+52_205+55del
XM_005246895.3:c.*29+52_*29+55del	XP_005246952.1:n.*29+52_*29+55del
XM_006712789.2:c.802+52_802+55del	XP_006712852.1:n.802+52_802+55del
XM_006712790.4:c.802+52_802+55del	XP_006712853.1:n.802+52_802+55del
XM_006712793.3:c.*29+52_*29+55del	XP_006712856.1:n.*29+52_*29+55del
XM_011511969.2:c.367+52_367+55del	XP_011510271.1:n.367+52_367+55del
XR_001738971.1:n.1065_1068del
NM_001080124.2:c.757+52_757+55del	NP_001073593.1:n.757+52_757+55del
NM_001080125.2:c.979+52_979+55del	NP_001073594.1:n.979+52_979+55del
NM_001372051.1:c.802+52_802+55del MANE Select	NP_001358980.1:n.802+52_802+55del
NM_033356.4:c.757+52_757+55del	NP_203520.1:n.757+52_757+55del
NM_033358.4:c.*29+52_*29+55del	NP_203522.1:n.*29+52_*29+55del
NR_111983.2:n.1228_1231del
NM_001400642.1:c.934+52_934+55del	NP_001387571.1:n.934+52_934+55del
NM_001400645.1:c.835+52_835+55del	NP_001387574.1:n.835+52_835+55del
NM_001400648.1:c.802+52_802+55del	NP_001387577.1:n.802+52_802+55del
NM_001400651.1:c.802+52_802+55del	NP_001387580.1:n.802+52_802+55del
NM_001400653.1:c.802+52_802+55del	NP_001387582.1:n.802+52_802+55del
NM_001400654.1:c.802+52_802+55del	NP_001387583.1:n.802+52_802+55del
NM_001400655.1:c.802+52_802+55del	NP_001387584.1:n.802+52_802+55del
NM_001400656.1:c.802+52_802+55del	NP_001387585.1:n.802+52_802+55del
NM_001400657.1:c.802+52_802+55del	NP_001387586.1:n.802+52_802+55del
NM_001400658.1:c.757+52_757+55del	NP_001387587.1:n.757+52_757+55del
NM_001400659.1:c.757+52_757+55del	NP_001387588.1:n.757+52_757+55del
NM_001400660.1:c.757+52_757+55del	NP_001387589.1:n.757+52_757+55del
NM_001400661.1:c.757+52_757+55del	NP_001387590.1:n.757+52_757+55del
NM_001400662.1:c.757+52_757+55del	NP_001387591.1:n.757+52_757+55del
NM_001400663.1:c.757+52_757+55del	NP_001387592.1:n.757+52_757+55del
NM_001400664.1:c.733+52_733+55del	NP_001387593.1:n.733+52_733+55del
NM_001400665.1:c.727+4244_727+4247del	NP_001387594.1:n.727+4244_727+4247del
NM_001400666.1:c.595+4078_595+4081del	NP_001387595.1:n.595+4078_595+4081del
NM_001400667.1:c.550+4244_550+4247del	NP_001387596.1:n.550+4244_550+4247del
NM_001400668.1:c.550+4244_550+4247del	NP_001387597.1:n.550+4244_550+4247del
NM_001400669.1:c.493+52_493+55del	NP_001387598.1:n.493+52_493+55del
NM_001400670.1:c.802+52_802+55del	NP_001387599.1:n.802+52_802+55del
NM_001400671.1:c.205+52_205+55del	NP_001387600.1:n.205+52_205+55del
NM_001400672.1:c.205+52_205+55del	NP_001387601.1:n.205+52_205+55del
NM_001400673.1:c.205+52_205+55del	NP_001387602.1:n.205+52_205+55del
NM_001400674.1:c.187+52_187+55del	NP_001387603.1:n.187+52_187+55del
NM_001400675.1:c.160+52_160+55del	NP_001387604.1:n.160+52_160+55del
NM_001400676.1:c.160+52_160+55del	NP_001387605.1:n.160+52_160+55del
NM_001400677.1:c.160+52_160+55del	NP_001387606.1:n.160+52_160+55del
NM_001400678.1:c.160+52_160+55del	NP_001387607.1:n.160+52_160+55del
NM_001400679.1:c.*81_*84del	NP_001387608.1:n.*81_*84del
NM_001400680.1:c.187+52_187+55del	NP_001387609.1:n.187+52_187+55del
NM_001400750.1:c.205+52_205+55del	NP_001387679.1:n.205+52_205+55del
NM_001400751.1:c.160+52_160+55del	NP_001387680.1:n.160+52_160+55del
NR_174564.1:n.807_810del
NR_174565.1:n.937_940del
NR_174581.1:n.963_966del
NR_174583.1:n.1069_1072del
NR_174584.1:n.1066+52_1066+55del
NR_174585.1:n.1000_1003del
NR_174586.1:n.974_977del
NR_174588.1:n.1137_1140del
NR_174589.1:n.932_935del
NR_174590.1:n.1024_1027del
NR_174591.1:n.955_958del
NR_174592.1:n.1300_1303del
NR_174593.1:n.1098_1101del
NR_174594.1:n.1141_1144del
NR_174595.1:n.1056_1059del
NR_174596.1:n.893_896del
NR_174598.1:n.1251_1254del
NR_174599.1:n.719+2067_719+2070del
NR_174600.1:n.1163_1166del
NR_174601.1:n.1088_1091del
NR_174602.1:n.958_961del