Canonical Allele Identifier: CA1748724532
Gene: KEL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957993G= , CM000669.2:g.142957993G= GRCh38
NC_000007.13:g.142655080G= , CM000669.1:g.142655080G= GRCh37
NC_000007.12:g.142365202G= NCBI36
NG_007492.1:g.9424C=
NG_007492.2:g.9424C=
NG_007492.3:g.9424C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-20C= MANE Select ENSP00000347409.2:n.526-20C=
ENST00000467543.6:c.*378-20C= ENSP00000420011.2:n.*378-20C=
ENST00000355265.6:c.526-20C= ENSP00000347409.2:n.526-20C=
ENST00000467543.5:c.469-20C= ENSP00000420011.1:n.469-20C=
ENST00000476829.5:c.525+311C= ENSP00000419889.1:n.525+311C=
ENST00000479768.6:n.644-20C=
ENST00000494148.1:n.125-20C=
NM_000420.2:c.526-20C= NP_000411.1:n.526-20C=
XM_005249993.2:c.562-20C= XP_005250050.1:n.562-20C=
NM_000420.3:c.526-20C= MANE Select NP_000411.1:n.526-20C=
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