Canonical Allele Identifier: CA2436790806

Gene: HDAC8

Linked Data

• dbSNP Id: rs2048989882
• gnomAD v4: X-72495360-CTAAAGTTCCCCCTTCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72495364_72495381del , CM000685.2:g.72495364_72495381del	GRCh38
NC_000023.10:g.71715214_71715231del , CM000685.1:g.71715214_71715231del	GRCh37
NC_000023.9:g.71631939_71631956del	NCBI36
NG_015851.1:g.82726_82743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373560.7:c.438-20649_438-20632del	ENSP00000362661.2:n.438-20649_438-20632del
ENST00000373568.7:c.438-110_438-93del	ENSP00000362669.3:n.438-110_438-93del
ENST00000373571.6:c.438-110_438-93del	ENSP00000362672.1:n.438-110_438-93del
ENST00000373573.9:c.438-110_438-93del MANE Select	ENSP00000362674.3:n.438-110_438-93del
ENST00000373583.6:c.438-110_438-93del	ENSP00000362685.2:n.438-110_438-93del
ENST00000373589.9:c.165-110_165-93del	ENSP00000362691.4:n.165-110_165-93del
ENST00000412342.6:c.*136-110_*136-93del	ENSP00000400180.1:n.*136-110_*136-93del
ENST00000415409.6:c.438-110_438-93del	ENSP00000396424.2:n.438-110_438-93del
ENST00000421523.6:c.279-110_279-93del	ENSP00000398997.2:n.279-110_279-93del
ENST00000436675.6:c.438-110_438-93del	ENSP00000416489.1:n.438-110_438-93del
ENST00000439122.7:c.438-110_438-93del	ENSP00000414486.2:n.438-110_438-93del
ENST00000478743.2:n.524-110_524-93del
ENST00000647594.1:c.438-110_438-93del	ENSP00000496814.1:n.438-110_438-93del
ENST00000647606.1:c.215-112_215-95del
ENST00000647613.1:c.*269-110_*269-93del	ENSP00000497911.1:n.*269-110_*269-93del
ENST00000647641.1:n.525-110_525-93del
ENST00000647654.1:c.165-110_165-93del	ENSP00000497568.1:n.165-110_165-93del
ENST00000647718.1:n.493-110_493-93del
ENST00000647859.1:c.438-110_438-93del	ENSP00000497530.1:n.438-110_438-93del
ENST00000647886.1:c.438-110_438-93del	ENSP00000497188.1:n.438-110_438-93del
ENST00000647974.1:c.182-110_182-93del
ENST00000647980.1:c.438-110_438-93del	ENSP00000498002.1:n.438-110_438-93del
ENST00000648036.1:c.438-110_438-93del	ENSP00000496994.1:n.438-110_438-93del
ENST00000648101.1:n.518-110_518-93del
ENST00000648139.1:c.438-30647_438-30630del	ENSP00000496818.1:n.438-30647_438-30630del
ENST00000648285.1:n.221-110_221-93del
ENST00000648298.1:c.438-110_438-93del	ENSP00000496866.1:n.438-110_438-93del
ENST00000648452.1:c.438-110_438-93del	ENSP00000497268.1:n.438-110_438-93del
ENST00000648459.1:c.135-30647_135-30630del	ENSP00000498072.1:n.135-30647_135-30630del
ENST00000648504.1:c.375-110_375-93del	ENSP00000497668.1:n.375-110_375-93del
ENST00000648577.1:c.438-110_438-93del	ENSP00000497552.1:n.438-110_438-93del
ENST00000648711.1:c.63-110_63-93del	ENSP00000498040.1:n.63-110_63-93del
ENST00000648731.1:c.358-110_358-93del
ENST00000648834.1:c.438-110_438-93del	ENSP00000497764.1:n.438-110_438-93del
ENST00000648855.1:n.362-110_362-93del
ENST00000648870.1:c.438-110_438-93del	ENSP00000497599.1:n.438-110_438-93del
ENST00000648922.1:c.438-110_438-93del	ENSP00000497072.1:n.438-110_438-93del
ENST00000648939.1:c.438-110_438-93del	ENSP00000497442.1:n.438-110_438-93del
ENST00000648962.1:c.438-110_438-93del	ENSP00000497516.1:n.438-110_438-93del
ENST00000649097.1:c.438-110_438-93del	ENSP00000497551.1:n.438-110_438-93del
ENST00000649116.1:c.438-112_438-95del	ENSP00000497925.1:n.438-112_438-95del
ENST00000649181.1:c.438-4372_438-4355del	ENSP00000498150.1:n.438-4372_438-4355del
ENST00000649242.1:c.438-110_438-93del	ENSP00000497943.1:n.438-110_438-93del
ENST00000649274.1:c.376-110_376-93del	ENSP00000497032.1:n.376-110_376-93del
ENST00000649518.1:c.438-110_438-93del	ENSP00000498169.1:n.438-110_438-93del
ENST00000649543.1:c.438-110_438-93del	ENSP00000496826.1:n.438-110_438-93del
ENST00000649752.1:c.165-110_165-93del	ENSP00000497267.1:n.165-110_165-93del
ENST00000650126.1:c.438-110_438-93del	ENSP00000498144.1:n.438-110_438-93del
ENST00000650471.1:c.296-110_296-93del	ENSP00000498027.1:n.296-110_296-93del
ENST00000650604.1:c.165-30647_165-30630del	ENSP00000497105.1:n.165-30647_165-30630del
ENST00000373559.8:c.165-110_165-93del	ENSP00000362660.4:n.165-110_165-93del
ENST00000373560.6:c.438-20649_438-20632del	ENSP00000362661.2:n.438-20649_438-20632del
ENST00000373568.6:c.165-110_165-93del	ENSP00000362669.2:n.165-110_165-93del
ENST00000373571.5:c.438-110_438-93del	ENSP00000362672.1:n.438-110_438-93del
ENST00000373573.7:c.438-110_438-93del	ENSP00000362674.3:n.438-110_438-93del
ENST00000373583.5:c.164+76679_164+76696del	ENSP00000362685.1:n.164+76679_164+76696del
ENST00000373589.8:c.165-110_165-93del	ENSP00000362691.4:n.165-110_165-93del
ENST00000412342.5:c.*136-110_*136-93del	ENSP00000400180.1:n.*136-110_*136-93del
ENST00000415409.5:c.438-110_438-93del	ENSP00000396424.1:n.438-110_438-93del
ENST00000421523.5:c.321-110_321-93del	ENSP00000398997.1:n.321-110_321-93del
ENST00000436675.5:c.438-110_438-93del	ENSP00000416489.1:n.438-110_438-93del
ENST00000439122.6:c.438-110_438-93del	ENSP00000414486.2:n.438-110_438-93del
ENST00000478743.1:n.378-110_378-93del
NM_001166418.1:c.165-110_165-93del	NP_001159890.1:n.165-110_165-93del
NM_001166419.1:c.438-110_438-93del	NP_001159891.1:n.438-110_438-93del
NM_001166448.1:c.165-110_165-93del	NP_001159920.1:n.165-110_165-93del
NM_018486.2:c.438-110_438-93del	NP_060956.1:n.438-110_438-93del
NR_051952.1:n.638-110_638-93del
XM_011530986.1:c.438-110_438-93del	XP_011529288.1:n.438-110_438-93del
XM_011530987.1:c.438-110_438-93del	XP_011529289.1:n.438-110_438-93del
XM_011530988.1:c.438-110_438-93del	XP_011529290.1:n.438-110_438-93del
XR_938402.1:n.524-110_524-93del
XM_011530986.3:c.438-110_438-93del	XP_011529288.3:n.438-110_438-93del
XM_017029640.2:c.438-110_438-93del	XP_016885129.2:n.438-110_438-93del
XM_017029641.2:c.438-110_438-93del	XP_016885130.2:n.438-110_438-93del
XM_017029642.1:c.279-110_279-93del	XP_016885131.1:n.279-110_279-93del
XM_017029643.2:c.552-30647_552-30630del	XP_016885132.1:n.552-30647_552-30630del
XM_017029644.2:c.279-110_279-93del	XP_016885133.1:n.279-110_279-93del
XM_017029645.2:c.552-30647_552-30630del	XP_016885134.1:n.552-30647_552-30630del
XM_017029646.1:c.51-110_51-93del	XP_016885135.1:n.51-110_51-93del
XM_017029647.2:c.438-110_438-93del	XP_016885136.2:n.438-110_438-93del
XM_024452405.1:c.-334-110_-334-93del	XP_024308173.1:n.-334-110_-334-93del
XR_001755711.2:n.524-110_524-93del
XR_002958779.1:n.524-110_524-93del
XR_002958780.1:n.524-110_524-93del
XR_002958781.1:n.524-110_524-93del
XR_002958782.1:n.500-110_500-93del
XR_002958783.1:n.500-110_500-93del
XR_938402.3:n.524-110_524-93del
NM_018486.3:c.438-110_438-93del MANE Select	NP_060956.1:n.438-110_438-93del
NM_001166418.2:c.165-110_165-93del	NP_001159890.1:n.165-110_165-93del
NM_001166419.2:c.438-110_438-93del	NP_001159891.1:n.438-110_438-93del
NM_001166448.2:c.165-110_165-93del	NP_001159920.1:n.165-110_165-93del
NR_051952.2:n.378-110_378-93del