Canonical Allele Identifier: CA8330430

Gene: KIAA0753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6610135_6610136del , CM000679.2:g.6610135_6610136del	GRCh38
NC_000017.10:g.6513455_6513456del , CM000679.1:g.6513455_6513456del	GRCh37
NC_000017.9:g.6454179_6454180del	NCBI36
NG_054885.1:g.35793_35794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634965.3:c.*2521_*2522del	ENSP00000499350.1:n.*2521_*2522del
ENST00000361413.8:c.1571_1572del MANE Select	ENSP00000355250.3:p.Arg524ThrfsTer7
ENST00000361413.7:c.1571_1572del	ENSP00000355250.3:p.Arg524ThrfsTer7
ENST00000542826.6:c.146_147del
ENST00000570790.5:c.*717_*718del	ENSP00000460816.1:n.*717_*718del
ENST00000572370.5:c.674_675del	ENSP00000460050.1:p.Arg225ThrfsTer7
NM_014804.2:c.1571_1572del	NP_055619.2:p.Arg524ThrfsTer7
XM_006721611.1:c.1571_1572del	XP_006721674.1:p.Arg524ThrfsTer7
XM_006721612.1:c.674_675del	XP_006721675.1:p.Arg225ThrfsTer7
XM_011524090.1:c.1571_1572del	XP_011522392.1:p.Arg524ThrfsTer7
XM_011524091.1:c.1571_1572del	XP_011522393.1:p.Arg524ThrfsTer7
XM_011524092.1:c.1571_1572del	XP_011522394.1:p.Arg524ThrfsTer7
XM_011524093.1:c.1571_1572del	XP_011522395.1:p.Arg524ThrfsTer7
XM_011524094.1:c.1571_1572del	XP_011522396.1:p.Arg524ThrfsTer7
XM_011524095.1:c.1571_1572del	XP_011522397.1:p.Arg524ThrfsTer7
XM_011524096.1:c.1571_1572del	XP_011522398.1:p.Arg524ThrfsTer7
XM_011524097.1:c.1571_1572del	XP_011522399.1:p.Arg524ThrfsTer7
XM_011524098.1:c.674_675del	XP_011522400.1:p.Arg225ThrfsTer7
XM_011524099.1:c.674_675del	XP_011522401.1:p.Arg225ThrfsTer7
XM_011524100.1:c.674_675del	XP_011522402.1:p.Arg225ThrfsTer7
XR_934126.1:n.1930_1931del
NM_001351225.1:c.674_675del	NP_001338154.1:p.Arg225ThrfsTer7
NR_147086.1:n.1593_1594del
NR_147087.1:n.1930_1931del
NR_147088.1:n.2037_2038del
XM_006721612.2:c.674_675del	XP_006721675.1:p.Arg225ThrfsTer7
XM_011524090.3:c.1571_1572del	XP_011522392.1:p.Arg524ThrfsTer7
XM_011524091.2:c.1571_1572del	XP_011522393.1:p.Arg524ThrfsTer7
XM_011524095.2:c.1571_1572del	XP_011522397.1:p.Arg524ThrfsTer7
XM_011524096.2:c.1571_1572del	XP_011522398.1:p.Arg524ThrfsTer7
XM_011524098.2:c.674_675del	XP_011522400.1:p.Arg225ThrfsTer7
XM_011524099.2:c.674_675del	XP_011522401.1:p.Arg225ThrfsTer7
XM_011524100.3:c.674_675del	XP_011522402.1:p.Arg225ThrfsTer7
XM_017025455.2:c.1571_1572del	XP_016880944.1:p.Arg524ThrfsTer7
XR_001752707.2:n.1733_1734del
XR_001752708.2:n.1733_1734del
XR_001752709.2:n.1733_1734del
XR_934126.2:n.1733_1734del
NM_014804.3:c.1571_1572del MANE Select	NP_055619.2:p.Arg524ThrfsTer7
NM_001351225.2:c.674_675del	NP_001338154.1:p.Arg225ThrfsTer7
NR_147086.2:n.1377_1378del
NR_147087.2:n.1714_1715del
NR_147088.2:n.1821_1822del