Canonical Allele Identifier: CA10654773
Gene: HDAC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369669
ClinVar RCV Id: RCV000408608
dbSNP Id: rs1057516037

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72464626_72464630delinsAC , CM000685.2:g.72464626_72464630delinsAC GRCh38
NC_000023.10:g.71684476_71684480delinsAC , CM000685.1:g.71684476_71684480delinsAC GRCh37
NC_000023.9:g.71601201_71601205delinsAC NCBI36
NG_015851.1:g.113474_113478delinsGT

Transcript Alleles

HGVS Amino-acid change
NM_001166418.1:c.566_570delinsGT VV NP_001159890.1:p.Thr189_Pro190delinsSer
NM_018486.2:c.839_843delinsGT VV NP_060956.1:p.Thr280_Pro281delinsSer
NR_051952.1:n.1039_1043delinsGT
XM_011530986.1:c.839_843delinsGT XP_011529288.1:p.Thr280_Pro281delinsSer
XM_011530987.1:c.839_843delinsGT XP_011529289.1:p.Thr280_Pro281delinsSer
XM_011530988.1:c.839_843delinsGT XP_011529290.1:p.Thr280_Pro281delinsSer
XR_938402.1:n.925_929delinsGT
XM_011530986.3:c.839_843delinsGT XP_011529288.3:p.Thr280_Pro281delinsSer
XM_017029640.2:c.761_765delinsGT XP_016885129.2:p.Thr254_Pro255delinsSer
XM_017029641.2:c.761_765delinsGT XP_016885130.2:p.Thr254_Pro255delinsSer
XM_017029642.1:c.680_684delinsGT XP_016885131.1:p.Thr227_Pro228delinsSer
XM_017029643.2:c.653_657delinsGT XP_016885132.1:p.Thr218_Pro219delinsSer
XM_017029644.2:c.602_606delinsGT XP_016885133.1:p.Thr201_Pro202delinsSer
XM_017029645.2:c.653_657delinsGT XP_016885134.1:p.Thr218_Pro219delinsSer
XM_017029646.1:c.452_456delinsGT XP_016885135.1:p.Thr151_Pro152delinsSer
XM_024452405.1:c.254_258delinsGT XP_024308173.1:p.Thr85_Pro86delinsSer
XR_001755711.2:n.925_929delinsGT
XR_002958779.1:n.925_929delinsGT
XR_002958780.1:n.925_929delinsGT
XR_002958781.1:n.925_929delinsGT
XR_002958782.1:n.901_905delinsGT
XR_002958783.1:n.901_905delinsGT
XR_938402.3:n.925_929delinsGT
NM_018486.3:c.839_843delinsGT VV MANE Preferred NP_060956.1:p.Thr280_Pro281delinsSer
ENST00000373568.6:c.566_570delinsGT ENSP00000362669.2:p.Thr189_Pro190delinsSe...
ENST00000373573.7:c.839_843delinsGT ENSP00000362674.3:p.Thr280_Pro281delinsSe...
ENST00000373583.5:c.164+107427_164+107431delinsGT ENSP00000362685.1:p.=
ENST00000373589.8:c.566_570delinsGT ENSP00000362691.4:p.Thr189_Pro190delinsSe...
ENST00000415409.5:c.761_765delinsGT ENSP00000396424.1:p.Thr254_Pro255delinsSe...
ENST00000436675.5:c.*94_*98delinsGT ENSP00000416489.1:p.=