Canonical Allele Identifier: CA2687076948

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933226-TGTGGCGGCGGCGGCTGTGGCTGCTGTGGAGGCGGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933235_41933270del , CM000670.2:g.41933235_41933270del	GRCh38
NC_000008.10:g.41790753_41790788del , CM000670.1:g.41790753_41790788del	GRCh37
NC_000008.9:g.41909910_41909945del	NCBI36
NG_042093.1:g.123765_123800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4958_4993del MANE Select	ENSP00000265713.2:p.Pro1653_Pro1664del
ENST00000396930.4:c.4958_4993del	ENSP00000380136.3:p.Pro1653_Pro1664del
ENST00000406337.6:c.4964_4999del	ENSP00000385888.2:p.Pro1655_Pro1666del
ENST00000648335.1:c.4958_4993del	ENSP00000497086.1:p.Pro1653_Pro1664del
ENST00000649817.1:c.3639_3674del
ENST00000265713.6:c.4958_4993del	ENSP00000265713.2:p.Pro1653_Pro1664del
ENST00000396930.3:c.4958_4993del	ENSP00000380136.3:p.Pro1653_Pro1664del
ENST00000406337.5:c.4958_4993del	ENSP00000385888.1:p.Pro1653_Pro1664del
NM_001099412.1:c.4958_4993del	NP_001092882.1:p.Pro1653_Pro1664del
NM_001099413.1:c.4958_4993del	NP_001092883.1:p.Pro1653_Pro1664del
NM_006766.3:c.4958_4993del	NP_006757.2:p.Pro1653_Pro1664del
NM_006766.4:c.4958_4993del	NP_006757.2:p.Pro1653_Pro1664del
XM_011544656.1:c.5090_5125del	XP_011542958.1:p.Pro1697_Pro1708del
XM_011544657.1:c.5090_5125del	XP_011542959.1:p.Pro1697_Pro1708del
XM_011544658.1:c.5090_5125del	XP_011542960.1:p.Pro1697_Pro1708del
XM_011544659.1:c.5069_5104del	XP_011542961.1:p.Pro1690_Pro1701del
XM_011544660.1:c.4976_5011del	XP_011542962.1:p.Pro1659_Pro1670del
XM_011544656.2:c.5090_5125del	XP_011542958.1:p.Pro1697_Pro1708del
XM_011544657.3:c.5090_5125del	XP_011542959.1:p.Pro1697_Pro1708del
XM_011544658.3:c.5090_5125del	XP_011542960.1:p.Pro1697_Pro1708del
XM_011544659.2:c.5069_5104del	XP_011542961.1:p.Pro1690_Pro1701del
XM_017013863.1:c.4958_4993del	XP_016869352.1:p.Pro1653_Pro1664del
XM_017013864.2:c.4958_4993del	XP_016869353.1:p.Pro1653_Pro1664del
XM_024447285.1:c.3530_3565del	XP_024303053.1:p.Pro1177_Pro1188del
NM_006766.5:c.4958_4993del MANE Select	NP_006757.2:p.Pro1653_Pro1664del