Canonical Allele Identifier: CA2778220888
Gene: KEL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958131C>T , CM000669.2:g.142958131C>T GRCh38
NC_000007.13:g.142655218C>T , CM000669.1:g.142655218C>T GRCh37
NC_000007.12:g.142365340C>T NCBI36
NG_007492.1:g.9286G>A
NG_007492.2:g.9286G>A
NG_007492.3:g.9286G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-158G>A MANE Select ENSP00000347409.2:n.526-158G>A
ENST00000467543.6:c.*378-158G>A ENSP00000420011.2:n.*378-158G>A
ENST00000355265.6:c.526-158G>A ENSP00000347409.2:n.526-158G>A
ENST00000467543.5:c.469-158G>A ENSP00000420011.1:n.469-158G>A
ENST00000476829.5:c.525+173G>A ENSP00000419889.1:n.525+173G>A
ENST00000479768.6:n.644-158G>A
ENST00000494148.1:n.125-158G>A
NM_000420.2:c.526-158G>A NP_000411.1:n.526-158G>A
XM_005249993.2:c.562-158G>A XP_005250050.1:n.562-158G>A
NM_000420.3:c.526-158G>A MANE Select NP_000411.1:n.526-158G>A
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