Canonical Allele Identifier: CA4729389

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 587892
• ClinVar RCV Id: RCV001683636 ; RCV002534532 ; RCV003928189
• dbSNP Id: rs750049486
• ExAC: 8:41790755 C / CGGCTGTGGCTGCTGT
• gnomAD v2: 8-41790755-C-CGGCTGTGGCTGCTGT
• gnomAD v3: 8-41933237-C-CGGCTGTGGCTGCTGT
• gnomAD v4: 8-41933237-C-CGGCTGTGGCTGCTGT
• MyVariant Identifiers: chr8:g.41790756_41790770dup (hg19) ; chr8:g.41790755_41790756insGGCTGTGGCTGCTGT (hg19) ; chr8:g.41933238_41933252dup (hg38) ; chr8:g.41933237_41933238insGGCTGTGGCTGCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933240_41933254dup , CM000670.2:g.41933240_41933254dup	GRCh38
NC_000008.10:g.41790758_41790772dup , CM000670.1:g.41790758_41790772dup	GRCh37
NC_000008.9:g.41909915_41909929dup	NCBI36
NG_042093.1:g.123775_123789dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4968_4982dup MANE Select	ENSP00000265713.2:p.Pro1661_Pro1662insGlnGlnProGlnPro
ENST00000396930.4:c.4968_4982dup	ENSP00000380136.3:p.Pro1661_Pro1662insGlnGlnProGlnPro
ENST00000406337.6:c.4974_4988dup	ENSP00000385888.2:p.Pro1663_Pro1664insGlnGlnProGlnPro
ENST00000648335.1:c.4968_4982dup	ENSP00000497086.1:p.Pro1661_Pro1662insGlnGlnProGlnPro
ENST00000649817.1:c.3649_3663dup
ENST00000265713.6:c.4968_4982dup	ENSP00000265713.2:p.Pro1661_Pro1662insGlnGlnProGlnPro
ENST00000396930.3:c.4968_4982dup	ENSP00000380136.3:p.Pro1661_Pro1662insGlnGlnProGlnPro
ENST00000406337.5:c.4968_4982dup	ENSP00000385888.1:p.Pro1661_Pro1662insGlnGlnProGlnPro
NM_001099412.1:c.4968_4982dup	NP_001092882.1:p.Pro1661_Pro1662insGlnGlnProGlnPro
NM_001099413.1:c.4968_4982dup	NP_001092883.1:p.Pro1661_Pro1662insGlnGlnProGlnPro
NM_006766.3:c.4968_4982dup	NP_006757.2:p.Pro1661_Pro1662insGlnGlnProGlnPro
NM_006766.4:c.4968_4982dup	NP_006757.2:p.Pro1661_Pro1662insGlnGlnProGlnPro
XM_011544656.1:c.5100_5114dup	XP_011542958.1:p.Pro1705_Pro1706insGlnGlnProGlnPro
XM_011544657.1:c.5100_5114dup	XP_011542959.1:p.Pro1705_Pro1706insGlnGlnProGlnPro
XM_011544658.1:c.5100_5114dup	XP_011542960.1:p.Pro1705_Pro1706insGlnGlnProGlnPro
XM_011544659.1:c.5079_5093dup	XP_011542961.1:p.Pro1698_Pro1699insGlnGlnProGlnPro
XM_011544660.1:c.4986_5000dup	XP_011542962.1:p.Pro1667_Pro1668insGlnGlnProGlnPro
XM_011544656.2:c.5100_5114dup	XP_011542958.1:p.Pro1705_Pro1706insGlnGlnProGlnPro
XM_011544657.3:c.5100_5114dup	XP_011542959.1:p.Pro1705_Pro1706insGlnGlnProGlnPro
XM_011544658.3:c.5100_5114dup	XP_011542960.1:p.Pro1705_Pro1706insGlnGlnProGlnPro
XM_011544659.2:c.5079_5093dup	XP_011542961.1:p.Pro1698_Pro1699insGlnGlnProGlnPro
XM_017013863.1:c.4968_4982dup	XP_016869352.1:p.Pro1661_Pro1662insGlnGlnProGlnPro
XM_017013864.2:c.4968_4982dup	XP_016869353.1:p.Pro1661_Pro1662insGlnGlnProGlnPro
XM_024447285.1:c.3540_3554dup	XP_024303053.1:p.Pro1185_Pro1186insGlnGlnProGlnPro
NM_006766.5:c.4968_4982dup MANE Select	NP_006757.2:p.Pro1661_Pro1662insGlnGlnProGlnPro