Canonical Allele Identifier: CA2649656620
Gene: CFHR5 HGNC NCBI

Linked Data

gnomAD v4: 1-196995891-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995893del , CM000663.2:g.196995893del GRCh38
NC_000001.10:g.196965023del , CM000663.1:g.196965023del GRCh37
NC_000001.9:g.195231646del NCBI36
NG_016365.1:g.23357del , LRG_227:g.23357del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.529del ENSP00000514393.1:p.Cys177ValfsTer5
ENST00000699467.1:n.853del
ENST00000699468.1:c.-24-221del ENSP00000514394.1:n.-24-221del
ENST00000256785.5:c.784del MANE Select ENSP00000256785.4:p.Cys262ValfsTer5
ENST00000256785.4:c.784del ENSP00000256785.4:p.Cys262ValfsTer5
NM_030787.3:c.784del , LRG_227t1:c.784del NP_110414.1:p.Cys262ValfsTer5
XM_011510020.1:c.793del XP_011508322.1:p.Cys265ValfsTer5
XM_011510020.2:c.793del XP_011508322.1:p.Cys265ValfsTer5
NM_030787.4:c.784del MANE Select NP_110414.1:p.Cys262ValfsTer5
Search 100 bp 5'
Search 100 bp 3'