Canonical Allele Identifier: CA9784940

Gene: KIZ KIZ-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21215650T>C , CM000682.2:g.21215650T>C	GRCh38
NC_000020.10:g.21196288T>C , CM000682.1:g.21196288T>C	GRCh37
NC_000020.9:g.21144288T>C	NCBI36
NG_033122.1:g.94666T>C
NG_033122.2:g.94671T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018474.6:c.1678+2T>C (KIZ) MANE Select	NP_060944.3:n.1678+2T>C
ENST00000619189.5:c.1678+2T>C (KIZ) MANE Select	ENSP00000479542.1:n.1678+2T>C
NM_001163022.1:c.1369+2T>C (KIZ)	NP_001156494.1:n.1369+2T>C
NM_001163022.2:c.1369+2T>C (KIZ)	NP_001156494.1:n.1369+2T>C
NM_001163022.3:c.1369+2T>C (KIZ)	NP_001156494.1:n.1369+2T>C
NM_001163023.1:c.1279+2T>C (KIZ)	NP_001156495.1:n.1279+2T>C
NM_001163023.2:c.1279+2T>C (KIZ)	NP_001156495.1:n.1279+2T>C
NM_001163023.3:c.1279+2T>C (KIZ)	NP_001156495.1:n.1279+2T>C
NM_001276389.1:c.1531+2T>C (KIZ)	NP_001263318.1:n.1531+2T>C
NM_001276389.2:c.1531+2T>C (KIZ)	NP_001263318.1:n.1531+2T>C
NM_001352434.1:c.1624+2T>C (KIZ)	NP_001339363.1:n.1624+2T>C
NM_001352434.2:c.1624+2T>C (KIZ)	NP_001339363.1:n.1624+2T>C
NM_001352435.1:c.1315+2T>C (KIZ)	NP_001339364.1:n.1315+2T>C
NM_001352435.2:c.1315+2T>C (KIZ)	NP_001339364.1:n.1315+2T>C
NM_001352436.1:c.1336+2T>C (KIZ)	NP_001339365.1:n.1336+2T>C
NM_001352436.2:c.1336+2T>C (KIZ)	NP_001339365.1:n.1336+2T>C
NM_018474.4:c.1678+2T>C (KIZ)	NP_060944.3:n.1678+2T>C
NM_018474.5:c.1678+2T>C (KIZ)	NP_060944.3:n.1678+2T>C
NR_109956.1:n.144-1628A>G (KIZ-AS1)
ENST00000611685.4:c.1529+2T>C (KIZ)
ENST00000616679.4:c.1276+950T>C (KIZ)	ENSP00000483065.1:n.1276+950T>C
ENST00000616848.4:c.1279+2T>C (KIZ)	ENSP00000480612.1:n.1279+2T>C
ENST00000619179.4:c.1273+950T>C (KIZ)	ENSP00000477873.1:n.1273+950T>C
ENST00000619189.4:c.1678+2T>C (KIZ)	ENSP00000479542.1:n.1678+2T>C
ENST00000619574.4:c.1531+2T>C (KIZ)	ENSP00000484706.1:n.1531+2T>C
ENST00000620891.4:c.1369+2T>C (KIZ)	ENSP00000478019.1:n.1369+2T>C
ENST00000621366.1:c.1007+2T>C (KIZ)
XM_011529296.1:c.1678+2T>C (KIZ)	XP_011527598.1:n.1678+2T>C
XM_011529296.3:c.1678+2T>C (KIZ)	XP_011527598.1:n.1678+2T>C
XM_011529297.1:c.1624+2T>C (KIZ)	XP_011527599.1:n.1624+2T>C
XM_011529297.3:c.1624+2T>C (KIZ)	XP_011527599.1:n.1624+2T>C
XM_011529298.1:c.1624+2T>C (KIZ)	XP_011527600.1:n.1624+2T>C
XM_011529299.1:c.1369+2T>C (KIZ)	XP_011527601.1:n.1369+2T>C
XM_011529299.3:c.1369+2T>C (KIZ)	XP_011527601.1:n.1369+2T>C
XM_017027951.2:c.1336+2T>C (KIZ)	XP_016883440.1:n.1336+2T>C
XM_017027952.2:c.1315+2T>C (KIZ)	XP_016883441.1:n.1315+2T>C
XR_001754334.2:n.1744+2T>C (KIZ)
XR_937105.1:n.1802+2T>C (KIZ)
XR_937105.3:n.1744+2T>C (KIZ)