Canonical Allele Identifier: CA1779195801
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933183_41933195delinsCGGCTGCTGCTGG , CM000670.2:g.41933183_41933195delinsCGGCTGCTGCTGG GRCh38
NC_000008.10:g.41790701_41790713delinsCGGCTGCTGCTGG , CM000670.1:g.41790701_41790713delinsCGGCTGCTGCTGG GRCh37
NC_000008.9:g.41909858_41909870delinsCGGCTGCTGCTGG NCBI36
NG_042093.1:g.123832_123844delinsCCAGCAGCAGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.5025_5037delinsCCAGCAGCAGCCG MANE Select ENSP00000265713.2:p.Pro1675=
ENST00000396930.4:c.5025_5037delinsCCAGCAGCAGCCG ENSP00000380136.3:p.Pro1675=
ENST00000406337.6:c.5031_5043delinsCCAGCAGCAGCCG ENSP00000385888.2:p.Pro1677=
ENST00000649817.1:c.3706_3718delinsCCAGCAGCAGCCG
ENST00000265713.6:c.5025_5037delinsCCAGCAGCAGCCG ENSP00000265713.2:p.Pro1675=
ENST00000396930.3:c.5025_5037delinsCCAGCAGCAGCCG ENSP00000380136.3:p.Pro1675=
ENST00000406337.5:c.5025_5037delinsCCAGCAGCAGCCG ENSP00000385888.1:p.Pro1675=
NM_001099412.1:c.5025_5037delinsCCAGCAGCAGCCG NP_001092882.1:p.Pro1675=
NM_001099413.1:c.5025_5037delinsCCAGCAGCAGCCG NP_001092883.1:p.Pro1675=
NM_006766.3:c.5025_5037delinsCCAGCAGCAGCCG NP_006757.2:p.Pro1675=
NM_006766.4:c.5025_5037delinsCCAGCAGCAGCCG NP_006757.2:p.Pro1675=
XM_011544656.1:c.5157_5169delinsCCAGCAGCAGCCG XP_011542958.1:p.Pro1719=
XM_011544657.1:c.5157_5169delinsCCAGCAGCAGCCG XP_011542959.1:p.Pro1719=
XM_011544658.1:c.5157_5169delinsCCAGCAGCAGCCG XP_011542960.1:p.Pro1719=
XM_011544659.1:c.5136_5148delinsCCAGCAGCAGCCG XP_011542961.1:p.Pro1712=
XM_011544660.1:c.5043_5055delinsCCAGCAGCAGCCG XP_011542962.1:p.Pro1681=
XM_011544656.2:c.5157_5169delinsCCAGCAGCAGCCG XP_011542958.1:p.Pro1719=
XM_011544657.3:c.5157_5169delinsCCAGCAGCAGCCG XP_011542959.1:p.Pro1719=
XM_011544658.3:c.5157_5169delinsCCAGCAGCAGCCG XP_011542960.1:p.Pro1719=
XM_011544659.2:c.5136_5148delinsCCAGCAGCAGCCG XP_011542961.1:p.Pro1712=
XM_017013863.1:c.5025_5037delinsCCAGCAGCAGCCG XP_016869352.1:p.Pro1675=
XM_017013864.2:c.5025_5037delinsCCAGCAGCAGCCG XP_016869353.1:p.Pro1675=
XM_024447285.1:c.3597_3609delinsCCAGCAGCAGCCG XP_024303053.1:p.Pro1199=
NM_006766.5:c.5025_5037delinsCCAGCAGCAGCCG MANE Select NP_006757.2:p.Pro1675=