Canonical Allele Identifier: CA1240113017

Gene: KHK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27092445_27092449delinsCTGAG , CM000664.2:g.27092445_27092449delinsCTGAG	GRCh38
NC_000002.11:g.27315313_27315317delinsCTGAG , CM000664.1:g.27315313_27315317delinsCTGAG	GRCh37
NC_000002.10:g.27168817_27168821delinsCTGAG	NCBI36
NG_012199.1:g.10703_10707delinsCTGAG
NG_012199.2:g.10703_10707delinsCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260599.11:c.206_209+1delinsCTGAG
ENST00000429697.2:c.206_209+1delinsCTGAG
ENST00000260598.10:c.206_209+1delinsCTGAG
ENST00000260598.9:c.206_209+1delinsCTGAG
ENST00000260599.10:c.206_209+1delinsCTGAG
ENST00000429697.1:c.206_209+1delinsCTGAG
ENST00000490823.5:n.554_557+1delinsCTGAG
NM_000221.2:c.206_209+1delinsCTGAG
NM_006488.2:c.206_209+1delinsCTGAG
XM_005264294.2:c.206_209+1delinsCTGAG
XM_005264296.2:c.206_209+1delinsCTGAG
XM_005264298.2:c.93-4284_93-4280delinsCTGAG	XP_005264355.1:n.93-4284_93-4280delinsCTGAG
XM_006712008.2:c.206_209+1delinsCTGAG
XM_006712009.2:c.206_209+1delinsCTGAG
XM_006712010.2:c.206_209+1delinsCTGAG
XM_006712011.2:c.206_209+1delinsCTGAG
XM_006712012.2:c.206_209+1delinsCTGAG
XM_006712013.2:c.206_209+1delinsCTGAG
XM_006712014.2:c.93-4284_93-4280delinsCTGAG	XP_006712077.1:n.93-4284_93-4280delinsCTGAG
XM_005264294.4:c.206_209+1delinsCTGAG
XM_005264296.4:c.206_209+1delinsCTGAG
XM_005264298.4:c.93-4284_93-4280delinsCTGAG	XP_005264355.1:n.93-4284_93-4280delinsCTGAG
XM_006712008.4:c.206_209+1delinsCTGAG
XM_006712009.4:c.206_209+1delinsCTGAG
XM_006712010.4:c.206_209+1delinsCTGAG
XM_006712011.4:c.206_209+1delinsCTGAG
XM_006712012.4:c.206_209+1delinsCTGAG
XM_006712013.4:c.206_209+1delinsCTGAG
XM_006712014.4:c.93-4284_93-4280delinsCTGAG	XP_006712077.1:n.93-4284_93-4280delinsCTGAG
XM_017004060.2:c.206_209+1delinsCTGAG
XM_017004061.2:c.206_209+1delinsCTGAG
NM_006488.3:c.206_209+1delinsCTGAG
NM_000221.3:c.206_209+1delinsCTGAG