Canonical Allele Identifier: CA1134161541
Gene: HDAC8 HGNC NCBI

Linked Data

dbSNP Id: rs2048974746
gnomAD v3: X-72494885-AACACT-A
gnomAD v4: X-72494885-AACACT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72494887_72494891del , CM000685.2:g.72494887_72494891del GRCh38
NC_000023.10:g.71714737_71714741del , CM000685.1:g.71714737_71714741del GRCh37
NC_000023.9:g.71631462_71631466del NCBI36
NG_015851.1:g.83214_83218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373560.7:c.438-20161_438-20157del ENSP00000362661.2:n.438-20161_438-20157del
ENST00000373568.7:c.550+266_550+270del ENSP00000362669.3:n.550+266_550+270del
ENST00000373571.6:c.550+266_550+270del ENSP00000362672.1:n.550+266_550+270del
ENST00000373573.9:c.550+266_550+270del MANE Select ENSP00000362674.3:n.550+266_550+270del
ENST00000373583.6:c.550+266_550+270del ENSP00000362685.2:n.550+266_550+270del
ENST00000373589.9:c.277+266_277+270del ENSP00000362691.4:n.277+266_277+270del
ENST00000412342.6:c.*248+266_*248+270del ENSP00000400180.1:n.*248+266_*248+270del
ENST00000415409.6:c.550+266_550+270del ENSP00000396424.2:n.550+266_550+270del
ENST00000436675.6:c.550+266_550+270del ENSP00000416489.1:n.550+266_550+270del
ENST00000439122.7:c.550+266_550+270del ENSP00000414486.2:n.550+266_550+270del
ENST00000478743.2:n.636+266_636+270del
ENST00000647594.1:c.550+266_550+270del ENSP00000496814.1:n.550+266_550+270del
ENST00000647606.1:c.325+266_325+270del
ENST00000647613.1:c.*381+266_*381+270del ENSP00000497911.1:n.*381+266_*381+270del
ENST00000647641.1:n.637+266_637+270del
ENST00000647654.1:c.277+266_277+270del ENSP00000497568.1:n.277+266_277+270del
ENST00000647718.1:n.605+266_605+270del
ENST00000647859.1:c.550+266_550+270del ENSP00000497530.1:n.550+266_550+270del
ENST00000647886.1:c.550+266_550+270del ENSP00000497188.1:n.550+266_550+270del
ENST00000647974.1:c.294+266_294+270del
ENST00000647980.1:c.550+266_550+270del ENSP00000498002.1:n.550+266_550+270del
ENST00000648036.1:c.550+266_550+270del ENSP00000496994.1:n.550+266_550+270del
ENST00000648139.1:c.438-30159_438-30155del ENSP00000496818.1:n.438-30159_438-30155del
ENST00000648285.1:n.333+266_333+270del
ENST00000648298.1:c.550+266_550+270del ENSP00000496866.1:n.550+266_550+270del
ENST00000648452.1:c.550+266_550+270del ENSP00000497268.1:n.550+266_550+270del
ENST00000648459.1:c.135-30159_135-30155del ENSP00000498072.1:n.135-30159_135-30155del
ENST00000648504.1:c.487+266_487+270del ENSP00000497668.1:n.487+266_487+270del
ENST00000648577.1:c.550+266_550+270del ENSP00000497552.1:n.550+266_550+270del
ENST00000648711.1:c.175+266_175+270del ENSP00000498040.1:n.175+266_175+270del
ENST00000648731.1:c.470+266_470+270del
ENST00000648834.1:c.550+266_550+270del ENSP00000497764.1:n.550+266_550+270del
ENST00000648855.1:n.474+266_474+270del
ENST00000648870.1:c.550+266_550+270del ENSP00000497599.1:n.550+266_550+270del
ENST00000648922.1:c.550+266_550+270del ENSP00000497072.1:n.550+266_550+270del
ENST00000648939.1:c.550+266_550+270del ENSP00000497442.1:n.550+266_550+270del
ENST00000648962.1:c.550+266_550+270del ENSP00000497516.1:n.550+266_550+270del
ENST00000649097.1:c.550+266_550+270del ENSP00000497551.1:n.550+266_550+270del
ENST00000649116.1:c.*107+266_*107+270del ENSP00000497925.1:n.*107+266_*107+270del
ENST00000649181.1:c.438-3884_438-3880del ENSP00000498150.1:n.438-3884_438-3880del
ENST00000649242.1:c.550+266_550+270del ENSP00000497943.1:n.550+266_550+270del
ENST00000649274.1:c.488+266_488+270del ENSP00000497032.1:n.488+266_488+270del
ENST00000649518.1:c.550+266_550+270del ENSP00000498169.1:n.550+266_550+270del
ENST00000649543.1:c.550+266_550+270del ENSP00000496826.1:n.550+266_550+270del
ENST00000649752.1:c.277+266_277+270del ENSP00000497267.1:n.277+266_277+270del
ENST00000650076.1:c.24+266_24+270del
ENST00000650126.1:c.550+266_550+270del ENSP00000498144.1:n.550+266_550+270del
ENST00000650471.1:c.408+266_408+270del ENSP00000498027.1:n.408+266_408+270del
ENST00000650604.1:c.165-30159_165-30155del ENSP00000497105.1:n.165-30159_165-30155del
ENST00000373559.8:c.277+266_277+270del ENSP00000362660.4:n.277+266_277+270del
ENST00000373560.6:c.438-20161_438-20157del ENSP00000362661.2:n.438-20161_438-20157del
ENST00000373568.6:c.277+266_277+270del ENSP00000362669.2:n.277+266_277+270del
ENST00000373571.5:c.550+266_550+270del ENSP00000362672.1:n.550+266_550+270del
ENST00000373573.7:c.550+266_550+270del ENSP00000362674.3:n.550+266_550+270del
ENST00000373583.5:c.164+77167_164+77171del ENSP00000362685.1:n.164+77167_164+77171del
ENST00000373589.8:c.277+266_277+270del ENSP00000362691.4:n.277+266_277+270del
ENST00000412342.5:c.*248+266_*248+270del ENSP00000400180.1:n.*248+266_*248+270del
ENST00000415409.5:c.550+266_550+270del ENSP00000396424.1:n.550+266_550+270del
ENST00000436675.5:c.550+266_550+270del ENSP00000416489.1:n.550+266_550+270del
ENST00000439122.6:c.550+266_550+270del ENSP00000414486.2:n.550+266_550+270del
ENST00000478743.1:n.490+266_490+270del
NM_001166418.1:c.277+266_277+270del NP_001159890.1:n.277+266_277+270del
NM_001166419.1:c.550+266_550+270del NP_001159891.1:n.550+266_550+270del
NM_001166448.1:c.277+266_277+270del NP_001159920.1:n.277+266_277+270del
NM_018486.2:c.550+266_550+270del NP_060956.1:n.550+266_550+270del
NR_051952.1:n.750+266_750+270del
XM_011530986.1:c.550+266_550+270del XP_011529288.1:n.550+266_550+270del
XM_011530987.1:c.550+266_550+270del XP_011529289.1:n.550+266_550+270del
XM_011530988.1:c.550+266_550+270del XP_011529290.1:n.550+266_550+270del
XR_938402.1:n.636+266_636+270del
XM_011530986.3:c.550+266_550+270del XP_011529288.3:n.550+266_550+270del
XM_017029640.2:c.550+266_550+270del XP_016885129.2:n.550+266_550+270del
XM_017029641.2:c.550+266_550+270del XP_016885130.2:n.550+266_550+270del
XM_017029642.1:c.391+266_391+270del XP_016885131.1:n.391+266_391+270del
XM_017029643.2:c.552-30159_552-30155del XP_016885132.1:n.552-30159_552-30155del
XM_017029644.2:c.391+266_391+270del XP_016885133.1:n.391+266_391+270del
XM_017029645.2:c.552-30159_552-30155del XP_016885134.1:n.552-30159_552-30155del
XM_017029646.1:c.163+266_163+270del XP_016885135.1:n.163+266_163+270del
XM_017029647.2:c.550+266_550+270del XP_016885136.2:n.550+266_550+270del
XM_024452405.1:c.-222+266_-222+270del XP_024308173.1:n.-222+266_-222+270del
XR_001755711.2:n.636+266_636+270del
XR_002958779.1:n.636+266_636+270del
XR_002958780.1:n.636+266_636+270del
XR_002958781.1:n.636+266_636+270del
XR_002958782.1:n.612+266_612+270del
XR_002958783.1:n.612+266_612+270del
XR_938402.3:n.636+266_636+270del
NM_018486.3:c.550+266_550+270del MANE Select NP_060956.1:n.550+266_550+270del
NM_001166418.2:c.277+266_277+270del NP_001159890.1:n.277+266_277+270del
NM_001166419.2:c.550+266_550+270del NP_001159891.1:n.550+266_550+270del
NM_001166448.2:c.277+266_277+270del NP_001159920.1:n.277+266_277+270del
NR_051952.2:n.490+266_490+270del
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