Canonical Allele Identifier: CA581928330

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1934155
• ClinVar RCV Id: RCV002631724
• gnomAD v2: 8-41790722-AGGCTGTGGTGCTGGTTGTGGTTGTGGCGGCGGCGGCTGTGGCTGCTGTGGAGGCGGTGGTGGC-A
• gnomAD v4: 8-41933204-AGGCTGTGGTGCTGGTTGTGGTTGTGGCGGCGGCGGCTGTGGCTGCTGTGGAGGCGGTGGTGGC-A
• MyVariant Identifiers: chr8:g.41790723_41790785del (hg19) ; chr8:g.41933205_41933267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933210_41933272del , CM000670.2:g.41933210_41933272del	GRCh38
NC_000008.10:g.41790728_41790790del , CM000670.1:g.41790728_41790790del	GRCh37
NC_000008.9:g.41909885_41909947del	NCBI36
NG_042093.1:g.123760_123822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4953_5015del MANE Select	ENSP00000265713.2:p.Pro1652_Pro1672del
ENST00000396930.4:c.4953_5015del	ENSP00000380136.3:p.Pro1652_Pro1672del
ENST00000406337.6:c.4959_5021del	ENSP00000385888.2:p.Pro1654_Pro1674del
ENST00000648335.1:c.4953_5015del	ENSP00000497086.1:p.Pro1652_Pro1672del
ENST00000649817.1:c.3634_3696del
ENST00000265713.6:c.4953_5015del	ENSP00000265713.2:p.Pro1652_Pro1672del
ENST00000396930.3:c.4953_5015del	ENSP00000380136.3:p.Pro1652_Pro1672del
ENST00000406337.5:c.4953_5015del	ENSP00000385888.1:p.Pro1652_Pro1672del
NM_001099412.1:c.4953_5015del	NP_001092882.1:p.Pro1652_Pro1672del
NM_001099413.1:c.4953_5015del	NP_001092883.1:p.Pro1652_Pro1672del
NM_006766.3:c.4953_5015del	NP_006757.2:p.Pro1652_Pro1672del
NM_006766.4:c.4953_5015del	NP_006757.2:p.Pro1652_Pro1672del
XM_011544656.1:c.5085_5147del	XP_011542958.1:p.Pro1696_Pro1716del
XM_011544657.1:c.5085_5147del	XP_011542959.1:p.Pro1696_Pro1716del
XM_011544658.1:c.5085_5147del	XP_011542960.1:p.Pro1696_Pro1716del
XM_011544659.1:c.5064_5126del	XP_011542961.1:p.Pro1689_Pro1709del
XM_011544660.1:c.4971_5033del	XP_011542962.1:p.Pro1658_Pro1678del
XM_011544656.2:c.5085_5147del	XP_011542958.1:p.Pro1696_Pro1716del
XM_011544657.3:c.5085_5147del	XP_011542959.1:p.Pro1696_Pro1716del
XM_011544658.3:c.5085_5147del	XP_011542960.1:p.Pro1696_Pro1716del
XM_011544659.2:c.5064_5126del	XP_011542961.1:p.Pro1689_Pro1709del
XM_017013863.1:c.4953_5015del	XP_016869352.1:p.Pro1652_Pro1672del
XM_017013864.2:c.4953_5015del	XP_016869353.1:p.Pro1652_Pro1672del
XM_024447285.1:c.3525_3587del	XP_024303053.1:p.Pro1176_Pro1196del
NM_006766.5:c.4953_5015del MANE Select	NP_006757.2:p.Pro1652_Pro1672del