Canonical Allele Identifier: CA1217885157
Gene: CFHR5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996034_196996036delinsCAT , CM000663.2:g.196996034_196996036delinsCAT GRCh38
NC_000001.10:g.196965164_196965166delinsCAT , CM000663.1:g.196965164_196965166delinsCAT GRCh37
NC_000001.9:g.195231787_195231789delinsCAT NCBI36
NG_016365.1:g.23498_23500delinsCAT , LRG_227:g.23498_23500delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.548_550delinsCAT ENSP00000514393.1:p.Thr183=
ENST00000699467.1:n.872_874delinsCAT
ENST00000699468.1:c.-24-80_-24-78delinsCAT ENSP00000514394.1:n.-24-80_-24-78delinsCAT
ENST00000256785.5:c.803_805delinsCAT MANE Select ENSP00000256785.4:p.Thr268=
ENST00000256785.4:c.803_805delinsCAT ENSP00000256785.4:p.Thr268=
NM_030787.3:c.803_805delinsCAT , LRG_227t1:c.803_805delinsCAT NP_110414.1:p.Thr268=
XM_011510020.1:c.812_814delinsCAT XP_011508322.1:p.Thr271=
XM_011510020.2:c.812_814delinsCAT XP_011508322.1:p.Thr271=
NM_030787.4:c.803_805delinsCAT MANE Select NP_110414.1:p.Thr268=
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