Canonical Allele Identifier: CA4729369

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 589281
• ClinVar RCV Id: RCV000734463 ; RCV000988054 ; RCV001672942 ; RCV002318702
• dbSNP Id: rs548231613
• ExAC: 8:41790686 CTGCGGCTGCTGT / C
• gnomAD v2: 8-41790686-CTGCGGCTGCTGT-C
• gnomAD v3: 8-41933168-CTGCGGCTGCTGT-C
• gnomAD v4: 8-41933168-CTGCGGCTGCTGT-C
• MyVariant Identifiers: chr8:g.41790687_41790698del (hg19) ; chr8:g.41933170_41933181del (hg38) ; chr8:g.41933169_41933180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933180_41933191del , CM000670.2:g.41933180_41933191del	GRCh38
NC_000008.10:g.41790698_41790709del , CM000670.1:g.41790698_41790709del	GRCh37
NC_000008.9:g.41909855_41909866del	NCBI36
NG_042093.1:g.123847_123858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5040_5051del MANE Select	ENSP00000265713.2:p.Gln1681_Gln1684del
ENST00000396930.4:c.5040_5051del	ENSP00000380136.3:p.Gln1681_Gln1684del
ENST00000406337.6:c.5046_5057del	ENSP00000385888.2:p.Gln1683_Gln1686del
ENST00000649817.1:c.3721_3732del
ENST00000265713.6:c.5040_5051del	ENSP00000265713.2:p.Gln1681_Gln1684del
ENST00000396930.3:c.5040_5051del	ENSP00000380136.3:p.Gln1681_Gln1684del
ENST00000406337.5:c.5040_5051del	ENSP00000385888.1:p.Gln1681_Gln1684del
NM_001099412.1:c.5040_5051del	NP_001092882.1:p.Gln1681_Gln1684del
NM_001099413.1:c.5040_5051del	NP_001092883.1:p.Gln1681_Gln1684del
NM_006766.3:c.5040_5051del	NP_006757.2:p.Gln1681_Gln1684del
NM_006766.4:c.5040_5051del	NP_006757.2:p.Gln1681_Gln1684del
XM_011544656.1:c.5172_5183del	XP_011542958.1:p.Gln1725_Gln1728del
XM_011544657.1:c.5172_5183del	XP_011542959.1:p.Gln1725_Gln1728del
XM_011544658.1:c.5172_5183del	XP_011542960.1:p.Gln1725_Gln1728del
XM_011544659.1:c.5151_5162del	XP_011542961.1:p.Gln1718_Gln1721del
XM_011544660.1:c.5058_5069del	XP_011542962.1:p.Gln1687_Gln1690del
XM_011544656.2:c.5172_5183del	XP_011542958.1:p.Gln1725_Gln1728del
XM_011544657.3:c.5172_5183del	XP_011542959.1:p.Gln1725_Gln1728del
XM_011544658.3:c.5172_5183del	XP_011542960.1:p.Gln1725_Gln1728del
XM_011544659.2:c.5151_5162del	XP_011542961.1:p.Gln1718_Gln1721del
XM_017013863.1:c.5040_5051del	XP_016869352.1:p.Gln1681_Gln1684del
XM_017013864.2:c.5040_5051del	XP_016869353.1:p.Gln1681_Gln1684del
XM_024447285.1:c.3612_3623del	XP_024303053.1:p.Gln1205_Gln1208del
NM_006766.5:c.5040_5051del MANE Select	NP_006757.2:p.Gln1681_Gln1684del