Canonical Allele Identifier: CA1748724504

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957949T= , CM000669.2:g.142957949T=	GRCh38
NC_000007.13:g.142655036T= , CM000669.1:g.142655036T=	GRCh37
NC_000007.12:g.142365158T=	NCBI36
NG_007492.1:g.9468A=
NG_007492.2:g.9468A=
NG_007492.3:g.9468A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.550A= MANE Select	ENSP00000347409.2:p.Lys184=
ENST00000467543.6:c.*402A=	ENSP00000420011.2:n.*402A=
ENST00000355265.6:c.550A=	ENSP00000347409.2:p.Lys184=
ENST00000467543.5:c.493A=	ENSP00000420011.1:p.Lys165=
ENST00000476829.5:c.525+355A=	ENSP00000419889.1:n.525+355A=
ENST00000479768.6:n.668A=
ENST00000494148.1:n.149A=
NM_000420.2:c.550A=	NP_000411.1:p.Lys184=
XM_005249993.2:c.586A=	XP_005250050.1:p.Lys196=
NM_000420.3:c.550A= MANE Select	NP_000411.1:p.Lys184=