Canonical Allele Identifier: CA1748724511

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957964A= , CM000669.2:g.142957964A=	GRCh38
NC_000007.13:g.142655051A= , CM000669.1:g.142655051A=	GRCh37
NC_000007.12:g.142365173A=	NCBI36
NG_007492.1:g.9453T=
NG_007492.2:g.9453T=
NG_007492.3:g.9453T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.535T= MANE Select	ENSP00000347409.2:p.Trp179=
ENST00000467543.6:c.*387T=	ENSP00000420011.2:n.*387T=
ENST00000355265.6:c.535T=	ENSP00000347409.2:p.Trp179=
ENST00000467543.5:c.478T=	ENSP00000420011.1:p.Trp160=
ENST00000476829.5:c.525+340T=	ENSP00000419889.1:n.525+340T=
ENST00000479768.6:n.653T=
ENST00000494148.1:n.134T=
NM_000420.2:c.535T=	NP_000411.1:p.Trp179=
XM_005249993.2:c.571T=	XP_005250050.1:p.Trp191=
NM_000420.3:c.535T= MANE Select	NP_000411.1:p.Trp179=