Canonical Allele Identifier: CA4729365

Gene: KAT6A

Linked Data

• dbSNP Id: rs764629675
• ExAC: 8:41790672 T / TGCTGGG
• gnomAD v2: 8-41790672-T-TGCTGGG
• MyVariant Identifiers: chr8:g.41790672_41790673insGCTGGG (hg19) ; chr8:g.41933154_41933155insGCTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933159_41933164dup , CM000670.2:g.41933159_41933164dup	GRCh38
NC_000008.10:g.41790677_41790682dup , CM000670.1:g.41790677_41790682dup	GRCh37
NC_000008.9:g.41909834_41909839dup	NCBI36
NG_042093.1:g.123867_123872dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5060_5065dup MANE Select	ENSP00000265713.2:p.Gln1688_Gln1689insProGln
ENST00000396930.4:c.5060_5065dup	ENSP00000380136.3:p.Gln1688_Gln1689insProGln
ENST00000406337.6:c.5066_5071dup	ENSP00000385888.2:p.Gln1690_Gln1691insProGln
ENST00000649817.1:c.3741_3746dup
ENST00000265713.6:c.5060_5065dup	ENSP00000265713.2:p.Gln1688_Gln1689insProGln
ENST00000396930.3:c.5060_5065dup	ENSP00000380136.3:p.Gln1688_Gln1689insProGln
ENST00000406337.5:c.5060_5065dup	ENSP00000385888.1:p.Gln1688_Gln1689insProGln
NM_001099412.1:c.5060_5065dup	NP_001092882.1:p.Gln1688_Gln1689insProGln
NM_001099413.1:c.5060_5065dup	NP_001092883.1:p.Gln1688_Gln1689insProGln
NM_006766.3:c.5060_5065dup	NP_006757.2:p.Gln1688_Gln1689insProGln
NM_006766.4:c.5060_5065dup	NP_006757.2:p.Gln1688_Gln1689insProGln
XM_011544656.1:c.5192_5197dup	XP_011542958.1:p.Gln1732_Gln1733insProGln
XM_011544657.1:c.5192_5197dup	XP_011542959.1:p.Gln1732_Gln1733insProGln
XM_011544658.1:c.5192_5197dup	XP_011542960.1:p.Gln1732_Gln1733insProGln
XM_011544659.1:c.5171_5176dup	XP_011542961.1:p.Gln1725_Gln1726insProGln
XM_011544660.1:c.5078_5083dup	XP_011542962.1:p.Gln1694_Gln1695insProGln
XM_011544656.2:c.5192_5197dup	XP_011542958.1:p.Gln1732_Gln1733insProGln
XM_011544657.3:c.5192_5197dup	XP_011542959.1:p.Gln1732_Gln1733insProGln
XM_011544658.3:c.5192_5197dup	XP_011542960.1:p.Gln1732_Gln1733insProGln
XM_011544659.2:c.5171_5176dup	XP_011542961.1:p.Gln1725_Gln1726insProGln
XM_017013863.1:c.5060_5065dup	XP_016869352.1:p.Gln1688_Gln1689insProGln
XM_017013864.2:c.5060_5065dup	XP_016869353.1:p.Gln1688_Gln1689insProGln
XM_024447285.1:c.3632_3637dup	XP_024303053.1:p.Gln1212_Gln1213insProGln
NM_006766.5:c.5060_5065dup MANE Select	NP_006757.2:p.Gln1688_Gln1689insProGln