Canonical Allele Identifier: CA1748724509

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957960C= , CM000669.2:g.142957960C=	GRCh38
NC_000007.13:g.142655047C= , CM000669.1:g.142655047C=	GRCh37
NC_000007.12:g.142365169C=	NCBI36
NG_007492.1:g.9457G=
NG_007492.2:g.9457G=
NG_007492.3:g.9457G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.539G= MANE Select	ENSP00000347409.2:p.Arg180=
ENST00000467543.6:c.*391G=	ENSP00000420011.2:n.*391G=
ENST00000355265.6:c.539G=	ENSP00000347409.2:p.Arg180=
ENST00000467543.5:c.482G=	ENSP00000420011.1:p.Arg161=
ENST00000476829.5:c.525+344G=	ENSP00000419889.1:n.525+344G=
ENST00000479768.6:n.657G=
ENST00000494148.1:n.138G=
NM_000420.2:c.539G=	NP_000411.1:p.Arg180=
XM_005249993.2:c.575G=	XP_005250050.1:p.Arg192=
NM_000420.3:c.539G= MANE Select	NP_000411.1:p.Arg180=