Canonical Allele Identifier: CA287352512
Gene: KIAA0753 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6612132_6612134delinsGTT , CM000679.2:g.6612132_6612134delinsGTT GRCh38
NC_000017.10:g.6515452_6515454delinsGTT , CM000679.1:g.6515452_6515454delinsGTT GRCh37
NC_000017.9:g.6456176_6456178delinsGTT NCBI36
NG_054885.1:g.33794_33796delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000634965.3:c.*2280_*2282delinsAAC ENSP00000499350.1:n.*2280_*2282delinsAAC
ENST00000361413.8:c.1330_1332delinsAAC MANE Select ENSP00000355250.3:p.Asp444Asn
ENST00000361413.7:c.1330_1332delinsAAC ENSP00000355250.3:p.Asp444Asn
ENST00000542826.6:c.121-1974_121-1972delinsAAC
ENST00000570790.5:c.*476_*478delinsAAC ENSP00000460816.1:n.*476_*478delinsAAC
ENST00000572370.5:c.433_435delinsAAC ENSP00000460050.1:p.Asp145Asn
NM_014804.2:c.1330_1332delinsAAC NP_055619.2:p.Asp444Asn
XM_006721611.1:c.1330_1332delinsAAC XP_006721674.1:p.Asp444Asn
XM_006721612.1:c.433_435delinsAAC XP_006721675.1:p.Asp145Asn
XM_011524090.1:c.1330_1332delinsAAC XP_011522392.1:p.Asp444Asn
XM_011524091.1:c.1330_1332delinsAAC XP_011522393.1:p.Asp444Asn
XM_011524092.1:c.1330_1332delinsAAC XP_011522394.1:p.Asp444Asn
XM_011524093.1:c.1330_1332delinsAAC XP_011522395.1:p.Asp444Asn
XM_011524094.1:c.1330_1332delinsAAC XP_011522396.1:p.Asp444Asn
XM_011524095.1:c.1330_1332delinsAAC XP_011522397.1:p.Asp444Asn
XM_011524096.1:c.1330_1332delinsAAC XP_011522398.1:p.Asp444Asn
XM_011524097.1:c.1330_1332delinsAAC XP_011522399.1:p.Asp444Asn
XM_011524098.1:c.433_435delinsAAC XP_011522400.1:p.Asp145Asn
XM_011524099.1:c.433_435delinsAAC XP_011522401.1:p.Asp145Asn
XM_011524100.1:c.433_435delinsAAC XP_011522402.1:p.Asp145Asn
XR_934126.1:n.1689_1691delinsAAC
NM_001351225.1:c.433_435delinsAAC NP_001338154.1:p.Asp145Asn
NR_147086.1:n.1568-1974_1568-1972delinsAAC
NR_147087.1:n.1905-1974_1905-1972delinsAAC
NR_147088.1:n.2012-1974_2012-1972delinsAAC
XM_006721612.2:c.433_435delinsAAC XP_006721675.1:p.Asp145Asn
XM_011524090.3:c.1330_1332delinsAAC XP_011522392.1:p.Asp444Asn
XM_011524091.2:c.1330_1332delinsAAC XP_011522393.1:p.Asp444Asn
XM_011524095.2:c.1330_1332delinsAAC XP_011522397.1:p.Asp444Asn
XM_011524096.2:c.1330_1332delinsAAC XP_011522398.1:p.Asp444Asn
XM_011524098.2:c.433_435delinsAAC XP_011522400.1:p.Asp145Asn
XM_011524099.2:c.433_435delinsAAC XP_011522401.1:p.Asp145Asn
XM_011524100.3:c.433_435delinsAAC XP_011522402.1:p.Asp145Asn
XM_017025455.2:c.1330_1332delinsAAC XP_016880944.1:p.Asp444Asn
XR_001752707.2:n.1492_1494delinsAAC
XR_001752708.2:n.1492_1494delinsAAC
XR_001752709.2:n.1492_1494delinsAAC
XR_934126.2:n.1492_1494delinsAAC
NM_014804.3:c.1330_1332delinsAAC MANE Select NP_055619.2:p.Asp444Asn
NM_001351225.2:c.433_435delinsAAC NP_001338154.1:p.Asp145Asn
NR_147086.2:n.1352-1974_1352-1972delinsAAC
NR_147087.2:n.1689-1974_1689-1972delinsAAC
NR_147088.2:n.1796-1974_1796-1972delinsAAC