Canonical Allele Identifier: CA10450130

Gene: HDAC8

Linked Data

• dbSNP Id: rs781806165
• ExAC: X:71684308 GTAT / G
• gnomAD v2: X-71684308-GTAT-G
• gnomAD v4: X-72464458-GTAT-G
• MyVariant Identifiers: chrX:g.71684309_71684311del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464462_72464464del , CM000685.2:g.72464462_72464464del	GRCh38
NC_000023.10:g.71684312_71684314del , CM000685.1:g.71684312_71684314del	GRCh37
NC_000023.9:g.71601037_71601039del	NCBI36
NG_015851.1:g.113643_113645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.910+98_910+100del	ENSP00000362669.3:n.910+98_910+100del
ENST00000373573.9:c.910+98_910+100del MANE Select	ENSP00000362674.3:n.910+98_910+100del
ENST00000373583.6:c.832+98_832+100del	ENSP00000362685.2:n.832+98_832+100del
ENST00000373589.9:c.637+98_637+100del	ENSP00000362691.4:n.637+98_637+100del
ENST00000415409.6:c.910+98_910+100del	ENSP00000396424.2:n.910+98_910+100del
ENST00000436675.6:c.*165+98_*165+100del	ENSP00000416489.1:n.*165+98_*165+100del
ENST00000470998.2:c.6+98_6+100del
ENST00000478743.2:n.996+98_996+100del
ENST00000647594.1:c.910+98_910+100del	ENSP00000496814.1:n.910+98_910+100del
ENST00000647606.1:c.685+98_685+100del
ENST00000647613.1:c.*663+98_*663+100del	ENSP00000497911.1:n.*663+98_*663+100del
ENST00000647641.1:n.997+98_997+100del
ENST00000647654.1:c.637+98_637+100del	ENSP00000497568.1:n.637+98_637+100del
ENST00000647718.1:n.1063_1065del
ENST00000647859.1:c.910+98_910+100del	ENSP00000497530.1:n.910+98_910+100del
ENST00000647886.1:c.910+98_910+100del	ENSP00000497188.1:n.910+98_910+100del
ENST00000647980.1:c.904+98_904+100del	ENSP00000498002.1:n.904+98_904+100del
ENST00000648139.1:c.610+98_610+100del	ENSP00000496818.1:n.610+98_610+100del
ENST00000648276.1:c.154+98_154+100del	ENSP00000497619.1:n.154+98_154+100del
ENST00000648285.1:n.791_793del
ENST00000648298.1:c.910+98_910+100del	ENSP00000496866.1:n.910+98_910+100del
ENST00000648452.1:c.910+98_910+100del	ENSP00000497268.1:n.910+98_910+100del
ENST00000648459.1:c.307+98_307+100del	ENSP00000498072.1:n.307+98_307+100del
ENST00000648504.1:c.847+98_847+100del	ENSP00000497668.1:n.847+98_847+100del
ENST00000648711.1:c.535+98_535+100del	ENSP00000498040.1:n.535+98_535+100del
ENST00000648731.1:c.1016+98_1016+100del
ENST00000648834.1:c.910+98_910+100del	ENSP00000497764.1:n.910+98_910+100del
ENST00000648850.1:c.545+98_545+100del
ENST00000648855.1:n.834+98_834+100del
ENST00000648870.1:c.910+98_910+100del	ENSP00000497599.1:n.910+98_910+100del
ENST00000648922.1:c.910+98_910+100del	ENSP00000497072.1:n.910+98_910+100del
ENST00000648939.1:c.910+98_910+100del	ENSP00000497442.1:n.910+98_910+100del
ENST00000649097.1:c.910+98_910+100del	ENSP00000497551.1:n.910+98_910+100del
ENST00000649116.1:c.*467+98_*467+100del	ENSP00000497925.1:n.*467+98_*467+100del
ENST00000649181.1:c.*272+98_*272+100del	ENSP00000498150.1:n.*272+98_*272+100del
ENST00000649242.1:c.*514+98_*514+100del	ENSP00000497943.1:n.*514+98_*514+100del
ENST00000649274.1:c.848+98_848+100del	ENSP00000497032.1:n.848+98_848+100del
ENST00000649518.1:c.*514+98_*514+100del	ENSP00000498169.1:n.*514+98_*514+100del
ENST00000649543.1:c.*514+98_*514+100del	ENSP00000496826.1:n.*514+98_*514+100del
ENST00000649752.1:c.637+98_637+100del	ENSP00000497267.1:n.637+98_637+100del
ENST00000650076.1:c.211+24472_211+24474del
ENST00000650471.1:c.*354+98_*354+100del	ENSP00000498027.1:n.*354+98_*354+100del
ENST00000650604.1:c.337+98_337+100del	ENSP00000497105.1:n.337+98_337+100del
ENST00000373568.6:c.637+98_637+100del	ENSP00000362669.2:n.637+98_637+100del
ENST00000373573.7:c.910+98_910+100del	ENSP00000362674.3:n.910+98_910+100del
ENST00000373583.5:c.164+107596_164+107598del	ENSP00000362685.1:n.164+107596_164+107598del
ENST00000373589.8:c.637+98_637+100del	ENSP00000362691.4:n.637+98_637+100del
ENST00000415409.5:c.832+98_832+100del	ENSP00000396424.1:n.832+98_832+100del
ENST00000436675.5:c.*165+98_*165+100del	ENSP00000416489.1:n.*165+98_*165+100del
NM_001166418.1:c.637+98_637+100del	NP_001159890.1:n.637+98_637+100del
NM_018486.2:c.910+98_910+100del	NP_060956.1:n.910+98_910+100del
NR_051952.1:n.1110+98_1110+100del
XM_011530986.1:c.910+98_910+100del	XP_011529288.1:n.910+98_910+100del
XM_011530987.1:c.910+98_910+100del	XP_011529289.1:n.910+98_910+100del
XM_011530988.1:c.910+98_910+100del	XP_011529290.1:n.910+98_910+100del
XR_938402.1:n.996+98_996+100del
XM_011530986.3:c.910+98_910+100del	XP_011529288.3:n.910+98_910+100del
XM_017029640.2:c.832+98_832+100del	XP_016885129.2:n.832+98_832+100del
XM_017029641.2:c.832+98_832+100del	XP_016885130.2:n.832+98_832+100del
XM_017029642.1:c.751+98_751+100del	XP_016885131.1:n.751+98_751+100del
XM_017029643.2:c.724+98_724+100del	XP_016885132.1:n.724+98_724+100del
XM_017029644.2:c.673+98_673+100del	XP_016885133.1:n.673+98_673+100del
XM_017029645.2:c.724+98_724+100del	XP_016885134.1:n.724+98_724+100del
XM_017029646.1:c.523+98_523+100del	XP_016885135.1:n.523+98_523+100del
XM_024452405.1:c.325+98_325+100del	XP_024308173.1:n.325+98_325+100del
XR_001755711.2:n.996+98_996+100del
XR_002958779.1:n.996+98_996+100del
XR_002958780.1:n.996+98_996+100del
XR_002958781.1:n.996+98_996+100del
XR_002958782.1:n.1070_1072del
XR_002958783.1:n.972+98_972+100del
XR_938402.3:n.996+98_996+100del
NM_018486.3:c.910+98_910+100del MANE Select	NP_060956.1:n.910+98_910+100del
NM_001166418.2:c.637+98_637+100del	NP_001159890.1:n.637+98_637+100del
NR_051952.2:n.850+98_850+100del