Canonical Allele Identifier: CA1748724443
Gene: KEL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957785G= , CM000669.2:g.142957785G= GRCh38
NC_000007.13:g.142654872G= , CM000669.1:g.142654872G= GRCh37
NC_000007.12:g.142364994G= NCBI36
NG_007492.1:g.9632C=
NG_007492.2:g.9632C=
NG_007492.3:g.9632C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672+42C= MANE Select ENSP00000347409.2:n.672+42C=
ENST00000355265.6:c.672+42C= ENSP00000347409.2:n.672+42C=
ENST00000476829.5:c.525+519C= ENSP00000419889.1:n.525+519C=
ENST00000479768.6:n.790+42C=
ENST00000494148.1:n.271+42C=
NM_000420.2:c.672+42C= NP_000411.1:n.672+42C=
XM_005249993.2:c.708+42C= XP_005250050.1:n.708+42C=
NM_000420.3:c.672+42C= MANE Select NP_000411.1:n.672+42C=
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