Canonical Allele Identifier: CA1748724519
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957981G= , CM000669.2:g.142957981G= GRCh38
NC_000007.13:g.142655068G= , CM000669.1:g.142655068G= GRCh37
NC_000007.12:g.142365190G= NCBI36
NG_007492.1:g.9436C=
NG_007492.2:g.9436C=
NG_007492.3:g.9436C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-8C= MANE Select ENSP00000347409.2:n.526-8C=
ENST00000467543.6:c.*378-8C= ENSP00000420011.2:n.*378-8C=
ENST00000355265.6:c.526-8C= ENSP00000347409.2:n.526-8C=
ENST00000467543.5:c.469-8C= ENSP00000420011.1:n.469-8C=
ENST00000476829.5:c.525+323C= ENSP00000419889.1:n.525+323C=
ENST00000479768.6:n.644-8C=
ENST00000494148.1:n.125-8C=
NM_000420.2:c.526-8C= NP_000411.1:n.526-8C=
XM_005249993.2:c.562-8C= XP_005250050.1:n.562-8C=
NM_000420.3:c.526-8C= MANE Select NP_000411.1:n.526-8C=