Canonical Allele Identifier: CA1217885081
Gene: CFHR5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995877_196995880delinsGACA , CM000663.2:g.196995877_196995880delinsGACA GRCh38
NC_000001.10:g.196965007_196965010delinsGACA , CM000663.1:g.196965007_196965010delinsGACA GRCh37
NC_000001.9:g.195231630_195231633delinsGACA NCBI36
NG_016365.1:g.23341_23344delinsGACA , LRG_227:g.23341_23344delinsGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.513_516delinsGACA ENSP00000514393.1:p.Trp171=
ENST00000699467.1:n.837_840delinsGACA
ENST00000699468.1:c.-24-237_-24-234delinsGACA ENSP00000514394.1:n.-24-237_-24-234delinsGACA
ENST00000256785.5:c.768_771delinsGACA MANE Select ENSP00000256785.4:p.Trp256=
ENST00000256785.4:c.768_771delinsGACA ENSP00000256785.4:p.Trp256=
NM_030787.3:c.768_771delinsGACA , LRG_227t1:c.768_771delinsGACA NP_110414.1:p.Trp256=
XM_011510020.1:c.777_780delinsGACA XP_011508322.1:p.Trp259=
XM_011510020.2:c.777_780delinsGACA XP_011508322.1:p.Trp259=
NM_030787.4:c.768_771delinsGACA MANE Select NP_110414.1:p.Trp256=
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