Canonical Allele Identifier: CA175938870

Gene: KAT6A

Linked Data

• dbSNP Id: rs915828014
• gnomAD v4: 8-41933215-CTGGTTG-C
• MyVariant Identifiers: chr8:g.41790734_41790739del (hg19) ; chr8:g.41933216_41933221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933225_41933230del , CM000670.2:g.41933225_41933230del	GRCh38
NC_000008.10:g.41790743_41790748del , CM000670.1:g.41790743_41790748del	GRCh37
NC_000008.9:g.41909900_41909905del	NCBI36
NG_042093.1:g.123806_123811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4999_5004del MANE Select	ENSP00000265713.2:p.Gln1667_Pro1668del
ENST00000396930.4:c.4999_5004del	ENSP00000380136.3:p.Gln1667_Pro1668del
ENST00000406337.6:c.5005_5010del	ENSP00000385888.2:p.Gln1669_Pro1670del
ENST00000648335.1:c.4999_5004del	ENSP00000497086.1:p.Gln1667_Pro1668del
ENST00000649817.1:c.3680_3685del
ENST00000265713.6:c.4999_5004del	ENSP00000265713.2:p.Gln1667_Pro1668del
ENST00000396930.3:c.4999_5004del	ENSP00000380136.3:p.Gln1667_Pro1668del
ENST00000406337.5:c.4999_5004del	ENSP00000385888.1:p.Gln1667_Pro1668del
NM_001099412.1:c.4999_5004del	NP_001092882.1:p.Gln1667_Pro1668del
NM_001099413.1:c.4999_5004del	NP_001092883.1:p.Gln1667_Pro1668del
NM_006766.3:c.4999_5004del	NP_006757.2:p.Gln1667_Pro1668del
NM_006766.4:c.4999_5004del	NP_006757.2:p.Gln1667_Pro1668del
XM_011544656.1:c.5131_5136del	XP_011542958.1:p.Gln1711_Pro1712del
XM_011544657.1:c.5131_5136del	XP_011542959.1:p.Gln1711_Pro1712del
XM_011544658.1:c.5131_5136del	XP_011542960.1:p.Gln1711_Pro1712del
XM_011544659.1:c.5110_5115del	XP_011542961.1:p.Gln1704_Pro1705del
XM_011544660.1:c.5017_5022del	XP_011542962.1:p.Gln1673_Pro1674del
XM_011544656.2:c.5131_5136del	XP_011542958.1:p.Gln1711_Pro1712del
XM_011544657.3:c.5131_5136del	XP_011542959.1:p.Gln1711_Pro1712del
XM_011544658.3:c.5131_5136del	XP_011542960.1:p.Gln1711_Pro1712del
XM_011544659.2:c.5110_5115del	XP_011542961.1:p.Gln1704_Pro1705del
XM_017013863.1:c.4999_5004del	XP_016869352.1:p.Gln1667_Pro1668del
XM_017013864.2:c.4999_5004del	XP_016869353.1:p.Gln1667_Pro1668del
XM_024447285.1:c.3571_3576del	XP_024303053.1:p.Gln1191_Pro1192del
NM_006766.5:c.4999_5004del MANE Select	NP_006757.2:p.Gln1667_Pro1668del