Canonical Allele Identifier: CA2574104936
Gene: CFHR5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995911_196995913del , CM000663.2:g.196995911_196995913del GRCh38
NC_000001.10:g.196965041_196965043del , CM000663.1:g.196965041_196965043del GRCh37
NC_000001.9:g.195231664_195231666del NCBI36
NG_016365.1:g.23375_23377del , LRG_227:g.23375_23377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.535+12_535+14del ENSP00000514393.1:n.535+12_535+14del
ENST00000699467.1:n.859+12_859+14del
ENST00000699468.1:c.-24-203_-24-201del ENSP00000514394.1:n.-24-203_-24-201del
ENST00000256785.5:c.790+12_790+14del MANE Select ENSP00000256785.4:n.790+12_790+14del
ENST00000256785.4:c.790+12_790+14del ENSP00000256785.4:n.790+12_790+14del
NM_030787.3:c.790+12_790+14del , LRG_227t1:c.790+12_790+14del NP_110414.1:n.790+12_790+14del
XM_011510020.1:c.799+12_799+14del XP_011508322.1:n.799+12_799+14del
XM_011510020.2:c.799+12_799+14del XP_011508322.1:n.799+12_799+14del
NM_030787.4:c.790+12_790+14del MANE Select NP_110414.1:n.790+12_790+14del