Canonical Allele Identifier: CA2579049281

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957845_142957846del , CM000669.2:g.142957845_142957846del	GRCh38
NC_000007.13:g.142654932_142654933del , CM000669.1:g.142654932_142654933del	GRCh37
NC_000007.12:g.142365054_142365055del	NCBI36
NG_007492.1:g.9578_9579del
NG_007492.2:g.9578_9579del
NG_007492.3:g.9578_9579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.660_661del MANE Select	ENSP00000347409.2:p.Pro221SerfsTer10
ENST00000467543.6:c.*512_*513del	ENSP00000420011.2:n.*512_*513del
ENST00000355265.6:c.660_661del	ENSP00000347409.2:p.Pro221SerfsTer10
ENST00000467543.5:c.603_604del	ENSP00000420011.1:p.Pro202SerfsTer?
ENST00000476829.5:c.525+465_525+466del	ENSP00000419889.1:n.525+465_525+466del
ENST00000479768.6:n.778_779del
ENST00000494148.1:n.259_260del
NM_000420.2:c.660_661del	NP_000411.1:p.Pro221SerfsTer10
XM_005249993.2:c.696_697del	XP_005250050.1:p.Pro233SerfsTer10
NM_000420.3:c.660_661del MANE Select	NP_000411.1:p.Pro221SerfsTer10