Canonical Allele Identifier: CA913141695

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2500680
• ClinVar RCV Id: RCV003225592
• MyVariant Identifiers: chr8:g.41791500_41791502del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933987_41933989del , CM000670.2:g.41933987_41933989del	GRCh38
NC_000008.10:g.41791505_41791507del , CM000670.1:g.41791505_41791507del	GRCh37
NC_000008.9:g.41910662_41910664del	NCBI36
NG_042093.1:g.123043_123045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4236_4238del MANE Select	ENSP00000265713.2:p.Glu1413del
ENST00000396930.4:c.4236_4238del	ENSP00000380136.3:p.Glu1413del
ENST00000406337.6:c.4242_4244del	ENSP00000385888.2:p.Glu1415del
ENST00000648335.1:c.4236_4238del	ENSP00000497086.1:p.Glu1413del
ENST00000649817.1:c.2917_2919del
ENST00000265713.6:c.4236_4238del	ENSP00000265713.2:p.Glu1413del
ENST00000396930.3:c.4236_4238del	ENSP00000380136.3:p.Glu1413del
ENST00000406337.5:c.4236_4238del	ENSP00000385888.1:p.Glu1413del
NM_001099412.1:c.4236_4238del	NP_001092882.1:p.Glu1413del
NM_001099413.1:c.4236_4238del	NP_001092883.1:p.Glu1413del
NM_006766.3:c.4236_4238del	NP_006757.2:p.Glu1413del
NM_006766.4:c.4236_4238del	NP_006757.2:p.Glu1413del
XM_011544656.1:c.4368_4370del	XP_011542958.1:p.Glu1457del
XM_011544657.1:c.4368_4370del	XP_011542959.1:p.Glu1457del
XM_011544658.1:c.4368_4370del	XP_011542960.1:p.Glu1457del
XM_011544659.1:c.4347_4349del	XP_011542961.1:p.Glu1450del
XM_011544660.1:c.4254_4256del	XP_011542962.1:p.Glu1419del
XM_011544656.2:c.4368_4370del	XP_011542958.1:p.Glu1457del
XM_011544657.3:c.4368_4370del	XP_011542959.1:p.Glu1457del
XM_011544658.3:c.4368_4370del	XP_011542960.1:p.Glu1457del
XM_011544659.2:c.4347_4349del	XP_011542961.1:p.Glu1450del
XM_017013863.1:c.4236_4238del	XP_016869352.1:p.Glu1413del
XM_017013864.2:c.4236_4238del	XP_016869353.1:p.Glu1413del
XM_024447285.1:c.2808_2810del	XP_024303053.1:p.Glu937del
NM_006766.5:c.4236_4238del MANE Select	NP_006757.2:p.Glu1413del