Canonical Allele Identifier: CA1748724601

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958174A= , CM000669.2:g.142958174A=	GRCh38
NC_000007.13:g.142655261A= , CM000669.1:g.142655261A=	GRCh37
NC_000007.12:g.142365383A=	NCBI36
NG_007492.1:g.9243T=
NG_007492.2:g.9243T=
NG_007492.3:g.9243T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+130T= MANE Select	ENSP00000347409.2:n.525+130T=
ENST00000467543.6:c.*377+130T=	ENSP00000420011.2:n.*377+130T=
ENST00000355265.6:c.525+130T=	ENSP00000347409.2:n.525+130T=
ENST00000467543.5:c.468+130T=	ENSP00000420011.1:n.468+130T=
ENST00000476829.5:c.525+130T=	ENSP00000419889.1:n.525+130T=
ENST00000479768.6:n.643+130T=
ENST00000494148.1:n.124+130T=
NM_000420.2:c.525+130T=	NP_000411.1:n.525+130T=
XM_005249993.2:c.561+130T=	XP_005250050.1:n.561+130T=
NM_000420.3:c.525+130T= MANE Select	NP_000411.1:n.525+130T=