Canonical Allele Identifier: CA1113181733

Gene: KAT6A

Linked Data

• dbSNP Id: rs1821696862
• gnomAD v3: 8-41933855-GGTCTGACACGCCGCAAGAGTTTCCTCACAGTCCTGGTAGGCGCCCTCATGCTCACTGCTTTCTTCTTGA-G
• gnomAD v4: 8-41933855-GGTCTGACACGCCGCAAGAGTTTCCTCACAGTCCTGGTAGGCGCCCTCATGCTCACTGCTTTCTTCTTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933859_41933927del , CM000670.2:g.41933859_41933927del	GRCh38
NC_000008.10:g.41791377_41791445del , CM000670.1:g.41791377_41791445del	GRCh37
NC_000008.9:g.41910534_41910602del	NCBI36
NG_042093.1:g.123103_123171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4296_4364del MANE Select	ENSP00000265713.2:p.Gln1433_Thr1455del
ENST00000396930.4:c.4296_4364del	ENSP00000380136.3:p.Gln1433_Thr1455del
ENST00000406337.6:c.4302_4370del	ENSP00000385888.2:p.Gln1435_Thr1457del
ENST00000648335.1:c.4296_4364del	ENSP00000497086.1:p.Gln1433_Thr1455del
ENST00000649817.1:c.2977_3045del
ENST00000265713.6:c.4296_4364del	ENSP00000265713.2:p.Gln1433_Thr1455del
ENST00000396930.3:c.4296_4364del	ENSP00000380136.3:p.Gln1433_Thr1455del
ENST00000406337.5:c.4296_4364del	ENSP00000385888.1:p.Gln1433_Thr1455del
NM_001099412.1:c.4296_4364del	NP_001092882.1:p.Gln1433_Thr1455del
NM_001099413.1:c.4296_4364del	NP_001092883.1:p.Gln1433_Thr1455del
NM_006766.3:c.4296_4364del	NP_006757.2:p.Gln1433_Thr1455del
NM_006766.4:c.4296_4364del	NP_006757.2:p.Gln1433_Thr1455del
XM_011544656.1:c.4428_4496del	XP_011542958.1:p.Gln1477_Thr1499del
XM_011544657.1:c.4428_4496del	XP_011542959.1:p.Gln1477_Thr1499del
XM_011544658.1:c.4428_4496del	XP_011542960.1:p.Gln1477_Thr1499del
XM_011544659.1:c.4407_4475del	XP_011542961.1:p.Gln1470_Thr1492del
XM_011544660.1:c.4314_4382del	XP_011542962.1:p.Gln1439_Thr1461del
XM_011544656.2:c.4428_4496del	XP_011542958.1:p.Gln1477_Thr1499del
XM_011544657.3:c.4428_4496del	XP_011542959.1:p.Gln1477_Thr1499del
XM_011544658.3:c.4428_4496del	XP_011542960.1:p.Gln1477_Thr1499del
XM_011544659.2:c.4407_4475del	XP_011542961.1:p.Gln1470_Thr1492del
XM_017013863.1:c.4296_4364del	XP_016869352.1:p.Gln1433_Thr1455del
XM_017013864.2:c.4296_4364del	XP_016869353.1:p.Gln1433_Thr1455del
XM_024447285.1:c.2868_2936del	XP_024303053.1:p.Gln957_Thr979del
NM_006766.5:c.4296_4364del MANE Select	NP_006757.2:p.Gln1433_Thr1455del