Canonical Allele Identifier: CA1748724464

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957830G= , CM000669.2:g.142957830G=	GRCh38
NC_000007.13:g.142654917G= , CM000669.1:g.142654917G=	GRCh37
NC_000007.12:g.142365039G=	NCBI36
NG_007492.1:g.9587C=
NG_007492.2:g.9587C=
NG_007492.3:g.9587C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.669C= MANE Select	ENSP00000347409.2:p.Ile223=
ENST00000467543.6:c.*521C=	ENSP00000420011.2:n.*521C=
ENST00000355265.6:c.669C=	ENSP00000347409.2:p.Ile223=
ENST00000467543.5:c.612C=	ENSP00000420011.1:p.Ile204=
ENST00000476829.5:c.525+474C=	ENSP00000419889.1:n.525+474C=
ENST00000479768.6:n.787C=
ENST00000494148.1:n.268C=
NM_000420.2:c.669C=	NP_000411.1:p.Ile223=
XM_005249993.2:c.705C=	XP_005250050.1:p.Ile235=
NM_000420.3:c.669C= MANE Select	NP_000411.1:p.Ile223=