Canonical Allele Identifier: CA1748724502

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957937_142957938delinsAG , CM000669.2:g.142957937_142957938delinsAG	GRCh38
NC_000007.13:g.142655024_142655025delinsAG , CM000669.1:g.142655024_142655025delinsAG	GRCh37
NC_000007.12:g.142365146_142365147delinsAG	NCBI36
NG_007492.1:g.9479_9480delinsCT
NG_007492.2:g.9479_9480delinsCT
NG_007492.3:g.9479_9480delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.561_562delinsCT MANE Select	ENSP00000347409.2:p.Ser187=
ENST00000467543.6:c.*413_*414delinsCT	ENSP00000420011.2:n.*413_*414delinsCT
ENST00000355265.6:c.561_562delinsCT	ENSP00000347409.2:p.Ser187=
ENST00000467543.5:c.504_505delinsCT	ENSP00000420011.1:p.Ser168=
ENST00000476829.5:c.525+366_525+367delinsCT	ENSP00000419889.1:n.525+366_525+367delinsCT
ENST00000479768.6:n.679_680delinsCT
ENST00000494148.1:n.160_161delinsCT
NM_000420.2:c.561_562delinsCT	NP_000411.1:p.Ser187=
XM_005249993.2:c.597_598delinsCT	XP_005250050.1:p.Ser199=
NM_000420.3:c.561_562delinsCT MANE Select	NP_000411.1:p.Ser187=