Canonical Allele Identifier: CA581928325

Gene: KAT6A

Linked Data

• dbSNP Id: rs1386153394
• gnomAD v2: 8-41790816-TCCA-T
• gnomAD v4: 8-41933298-TCCA-T
• MyVariant Identifiers: chr8:g.41790817_41790819del (hg19) ; chr8:g.41933299_41933301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933303_41933305del , CM000670.2:g.41933303_41933305del	GRCh38
NC_000008.10:g.41790821_41790823del , CM000670.1:g.41790821_41790823del	GRCh37
NC_000008.9:g.41909978_41909980del	NCBI36
NG_042093.1:g.123726_123728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4919_4921del MANE Select	ENSP00000265713.2:p.Val1640del
ENST00000396930.4:c.4919_4921del	ENSP00000380136.3:p.Val1640del
ENST00000406337.6:c.4925_4927del	ENSP00000385888.2:p.Val1642del
ENST00000648335.1:c.4919_4921del	ENSP00000497086.1:p.Val1640del
ENST00000649817.1:c.3600_3602del
ENST00000265713.6:c.4919_4921del	ENSP00000265713.2:p.Val1640del
ENST00000396930.3:c.4919_4921del	ENSP00000380136.3:p.Val1640del
ENST00000406337.5:c.4919_4921del	ENSP00000385888.1:p.Val1640del
NM_001099412.1:c.4919_4921del	NP_001092882.1:p.Val1640del
NM_001099413.1:c.4919_4921del	NP_001092883.1:p.Val1640del
NM_006766.3:c.4919_4921del	NP_006757.2:p.Val1640del
NM_006766.4:c.4919_4921del	NP_006757.2:p.Val1640del
XM_011544656.1:c.5051_5053del	XP_011542958.1:p.Val1684del
XM_011544657.1:c.5051_5053del	XP_011542959.1:p.Val1684del
XM_011544658.1:c.5051_5053del	XP_011542960.1:p.Val1684del
XM_011544659.1:c.5030_5032del	XP_011542961.1:p.Val1677del
XM_011544660.1:c.4937_4939del	XP_011542962.1:p.Val1646del
XM_011544656.2:c.5051_5053del	XP_011542958.1:p.Val1684del
XM_011544657.3:c.5051_5053del	XP_011542959.1:p.Val1684del
XM_011544658.3:c.5051_5053del	XP_011542960.1:p.Val1684del
XM_011544659.2:c.5030_5032del	XP_011542961.1:p.Val1677del
XM_017013863.1:c.4919_4921del	XP_016869352.1:p.Val1640del
XM_017013864.2:c.4919_4921del	XP_016869353.1:p.Val1640del
XM_024447285.1:c.3491_3493del	XP_024303053.1:p.Val1164del
NM_006766.5:c.4919_4921del MANE Select	NP_006757.2:p.Val1640del