Canonical Allele Identifier: CA2662637600

Gene: CASP8

Linked Data

• gnomAD v4: 2-201277088-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201277091_201277092del , CM000664.2:g.201277091_201277092del	GRCh38
NC_000002.11:g.202141814_202141815del , CM000664.1:g.202141814_202141815del	GRCh37
NC_000002.10:g.201850059_201850060del	NCBI36
NG_007497.1:g.48634_48635del , LRG_34:g.48634_48635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413726.6:c.802+123_802+124del	ENSP00000397528.2:n.802+123_802+124del
ENST00000440732.6:c.802+123_802+124del	ENSP00000396869.2:n.802+123_802+124del
ENST00000444430.3:c.550+4315_550+4316del	ENSP00000394434.3:n.550+4315_550+4316del
ENST00000447616.6:c.*29+123_*29+124del	ENSP00000388306.2:n.*29+123_*29+124del
ENST00000450491.6:c.448+123_448+124del	ENSP00000391709.2:n.448+123_448+124del
ENST00000696067.1:c.802+123_802+124del	ENSP00000512369.1:n.802+123_802+124del
ENST00000696068.1:c.*29+123_*29+124del	ENSP00000512370.1:n.*29+123_*29+124del
ENST00000696069.1:c.757+123_757+124del	ENSP00000512371.1:n.757+123_757+124del
ENST00000696085.1:c.934+123_934+124del	ENSP00000512381.1:n.934+123_934+124del
ENST00000696087.1:c.757+123_757+124del	ENSP00000512382.1:n.757+123_757+124del
ENST00000673742.1:c.802+123_802+124del MANE Select	ENSP00000501268.1:n.802+123_802+124del
ENST00000264274.13:c.550+4315_550+4316del	ENSP00000264274.9:n.550+4315_550+4316del
ENST00000264275.9:c.853+123_853+124del	ENSP00000264275.5:n.853+123_853+124del
ENST00000323492.11:c.757+123_757+124del	ENSP00000325722.7:n.757+123_757+124del
ENST00000339403.6:n.1010_1011del
ENST00000358485.8:c.979+123_979+124del	ENSP00000351273.4:n.979+123_979+124del
ENST00000392258.7:c.*29+123_*29+124del	ENSP00000376087.3:n.*29+123_*29+124del
ENST00000392263.6:c.757+123_757+124del	ENSP00000376091.2:n.757+123_757+124del
ENST00000392266.7:c.758+122_758+123del	ENSP00000376094.4:n.758+122_758+123del
ENST00000424461.5:c.281+123_281+124del	ENSP00000390346.1:n.281+123_281+124del
ENST00000432109.6:c.802+123_802+124del	ENSP00000412523.2:n.802+123_802+124del
ENST00000444430.2:c.139+4315_139+4316del	ENSP00000394434.2:n.139+4315_139+4316del
NM_001080124.1:c.757+123_757+124del	NP_001073593.1:n.757+123_757+124del
NM_001080125.1:c.979+123_979+124del	NP_001073594.1:n.979+123_979+124del
NM_001228.4:c.853+123_853+124del , LRG_34t1:c.853+123_853+124del	NP_001219.2:n.853+123_853+124del
NM_033355.3:c.802+123_802+124del , LRG_34t2:c.802+123_802+124del	NP_203519.1:n.802+123_802+124del
NM_033356.3:c.757+123_757+124del	NP_203520.1:n.757+123_757+124del
NM_033358.3:c.*29+123_*29+124del	NP_203522.1:n.*29+123_*29+124del
NR_111983.1:n.1303_1304del
XM_005246885.1:c.934+123_934+124del	XP_005246942.1:n.934+123_934+124del
XM_005246886.1:c.802+123_802+124del	XP_005246943.1:n.802+123_802+124del
XM_005246887.1:c.802+123_802+124del	XP_005246944.1:n.802+123_802+124del
XM_005246888.1:c.802+123_802+124del	XP_005246945.1:n.802+123_802+124del
XM_005246889.1:c.802+123_802+124del	XP_005246946.1:n.802+123_802+124del
XM_005246890.2:c.802+123_802+124del	XP_005246947.1:n.802+123_802+124del
XM_005246891.3:c.802+123_802+124del	XP_005246948.1:n.802+123_802+124del
XM_005246892.1:c.757+123_757+124del	XP_005246949.1:n.757+123_757+124del
XM_005246893.2:c.*29+123_*29+124del	XP_005246950.1:n.*29+123_*29+124del
XM_005246894.2:c.205+123_205+124del	XP_005246951.1:n.205+123_205+124del
XM_005246895.2:c.*29+123_*29+124del	XP_005246952.1:n.*29+123_*29+124del
XM_006712789.1:c.802+123_802+124del	XP_006712852.1:n.802+123_802+124del
XM_006712790.2:c.802+123_802+124del	XP_006712853.1:n.802+123_802+124del
XM_006712791.1:c.727+4315_727+4316del	XP_006712854.1:n.727+4315_727+4316del
XM_006712793.2:c.*29+123_*29+124del	XP_006712856.1:n.*29+123_*29+124del
XM_011511968.1:c.979+123_979+124del	XP_011510270.1:n.979+123_979+124del
XM_011511969.1:c.367+123_367+124del	XP_011510271.1:n.367+123_367+124del
XM_011511970.1:c.*29+123_*29+124del	XP_011510272.1:n.*29+123_*29+124del
XR_923035.1:n.1058_1059del
XM_005246885.2:c.934+123_934+124del	XP_005246942.1:n.934+123_934+124del
XM_005246886.2:c.802+123_802+124del	XP_005246943.1:n.802+123_802+124del
XM_005246887.2:c.802+123_802+124del	XP_005246944.1:n.802+123_802+124del
XM_005246888.2:c.802+123_802+124del	XP_005246945.1:n.802+123_802+124del
XM_005246889.2:c.802+123_802+124del	XP_005246946.1:n.802+123_802+124del
XM_005246890.4:c.802+123_802+124del	XP_005246947.1:n.802+123_802+124del
XM_005246891.5:c.802+123_802+124del	XP_005246948.1:n.802+123_802+124del
XM_005246892.2:c.757+123_757+124del	XP_005246949.1:n.757+123_757+124del
XM_005246893.3:c.*29+123_*29+124del	XP_005246950.1:n.*29+123_*29+124del
XM_005246894.4:c.205+123_205+124del	XP_005246951.1:n.205+123_205+124del
XM_005246895.3:c.*29+123_*29+124del	XP_005246952.1:n.*29+123_*29+124del
XM_006712789.2:c.802+123_802+124del	XP_006712852.1:n.802+123_802+124del
XM_006712790.4:c.802+123_802+124del	XP_006712853.1:n.802+123_802+124del
XM_006712793.3:c.*29+123_*29+124del	XP_006712856.1:n.*29+123_*29+124del
XM_011511969.2:c.367+123_367+124del	XP_011510271.1:n.367+123_367+124del
XR_001738971.1:n.1136_1137del
NM_001080124.2:c.757+123_757+124del	NP_001073593.1:n.757+123_757+124del
NM_001080125.2:c.979+123_979+124del	NP_001073594.1:n.979+123_979+124del
NM_001372051.1:c.802+123_802+124del MANE Select	NP_001358980.1:n.802+123_802+124del
NM_033356.4:c.757+123_757+124del	NP_203520.1:n.757+123_757+124del
NM_033358.4:c.*29+123_*29+124del	NP_203522.1:n.*29+123_*29+124del
NR_111983.2:n.1299_1300del
NM_001400642.1:c.934+123_934+124del	NP_001387571.1:n.934+123_934+124del
NM_001400645.1:c.835+123_835+124del	NP_001387574.1:n.835+123_835+124del
NM_001400648.1:c.802+123_802+124del	NP_001387577.1:n.802+123_802+124del
NM_001400651.1:c.802+123_802+124del	NP_001387580.1:n.802+123_802+124del
NM_001400653.1:c.802+123_802+124del	NP_001387582.1:n.802+123_802+124del
NM_001400654.1:c.802+123_802+124del	NP_001387583.1:n.802+123_802+124del
NM_001400655.1:c.802+123_802+124del	NP_001387584.1:n.802+123_802+124del
NM_001400656.1:c.802+123_802+124del	NP_001387585.1:n.802+123_802+124del
NM_001400657.1:c.802+123_802+124del	NP_001387586.1:n.802+123_802+124del
NM_001400658.1:c.757+123_757+124del	NP_001387587.1:n.757+123_757+124del
NM_001400659.1:c.757+123_757+124del	NP_001387588.1:n.757+123_757+124del
NM_001400660.1:c.757+123_757+124del	NP_001387589.1:n.757+123_757+124del
NM_001400661.1:c.757+123_757+124del	NP_001387590.1:n.757+123_757+124del
NM_001400662.1:c.757+123_757+124del	NP_001387591.1:n.757+123_757+124del
NM_001400663.1:c.757+123_757+124del	NP_001387592.1:n.757+123_757+124del
NM_001400664.1:c.733+123_733+124del	NP_001387593.1:n.733+123_733+124del
NM_001400665.1:c.727+4315_727+4316del	NP_001387594.1:n.727+4315_727+4316del
NM_001400666.1:c.595+4149_595+4150del	NP_001387595.1:n.595+4149_595+4150del
NM_001400667.1:c.550+4315_550+4316del	NP_001387596.1:n.550+4315_550+4316del
NM_001400668.1:c.550+4315_550+4316del	NP_001387597.1:n.550+4315_550+4316del
NM_001400669.1:c.493+123_493+124del	NP_001387598.1:n.493+123_493+124del
NM_001400670.1:c.802+123_802+124del	NP_001387599.1:n.802+123_802+124del
NM_001400671.1:c.205+123_205+124del	NP_001387600.1:n.205+123_205+124del
NM_001400672.1:c.205+123_205+124del	NP_001387601.1:n.205+123_205+124del
NM_001400673.1:c.205+123_205+124del	NP_001387602.1:n.205+123_205+124del
NM_001400674.1:c.187+123_187+124del	NP_001387603.1:n.187+123_187+124del
NM_001400675.1:c.160+123_160+124del	NP_001387604.1:n.160+123_160+124del
NM_001400676.1:c.160+123_160+124del	NP_001387605.1:n.160+123_160+124del
NM_001400677.1:c.160+123_160+124del	NP_001387606.1:n.160+123_160+124del
NM_001400678.1:c.160+123_160+124del	NP_001387607.1:n.160+123_160+124del
NM_001400679.1:c.*152_*153del	NP_001387608.1:n.*152_*153del
NM_001400680.1:c.187+123_187+124del	NP_001387609.1:n.187+123_187+124del
NM_001400750.1:c.205+123_205+124del	NP_001387679.1:n.205+123_205+124del
NM_001400751.1:c.160+123_160+124del	NP_001387680.1:n.160+123_160+124del
NR_174564.1:n.878_879del
NR_174565.1:n.1008_1009del
NR_174581.1:n.1034_1035del
NR_174583.1:n.1140_1141del
NR_174584.1:n.1066+123_1066+124del
NR_174585.1:n.1071_1072del
NR_174586.1:n.1045_1046del
NR_174588.1:n.1208_1209del
NR_174589.1:n.1003_1004del
NR_174590.1:n.1095_1096del
NR_174591.1:n.1026_1027del
NR_174592.1:n.1371_1372del
NR_174593.1:n.1169_1170del
NR_174594.1:n.1212_1213del
NR_174595.1:n.1127_1128del
NR_174596.1:n.964_965del
NR_174598.1:n.1322_1323del
NR_174599.1:n.719+2138_719+2139del
NR_174600.1:n.1234_1235del
NR_174601.1:n.1159_1160del
NR_174602.1:n.1029_1030del