Canonical Allele Identifier: CA2100143522

Gene: KLHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.69881529A= , CM000675.2:g.69881529A=	GRCh38
NC_000013.10:g.70455661A= , CM000675.1:g.70455661A=	GRCh37
NC_000013.9:g.69353662A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020866.3:c.1227+754T= MANE Select	NP_065917.1:n.1227+754T=
ENST00000377844.9:c.1227+754T= MANE Select	ENSP00000367075.4:n.1227+754T=
NM_001286725.1:c.1044+754T=	NP_001273654.1:n.1044+754T=
NM_001286725.2:c.1044+754T=	NP_001273654.1:n.1044+754T=
NM_020866.2:c.1227+754T=	NP_065917.1:n.1227+754T=
ENST00000377844.8:c.1227+754T=	ENSP00000367075.4:n.1227+754T=
ENST00000545028.2:c.1044+754T=	ENSP00000439602.2:n.1044+754T=
XM_017020678.2:c.708+754T=	XP_016876167.1:n.708+754T=
XM_017020679.1:c.558+754T=	XP_016876168.1:n.558+754T=