Canonical Allele Identifier: CA1217885100
Gene: CFHR5 HGNC NCBI

Linked Data

dbSNP Id: rs1653978497
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995899_196995900insAGGAG , CM000663.2:g.196995899_196995900insAGGAG GRCh38
NC_000001.10:g.196965029_196965030insAGGAG , CM000663.1:g.196965029_196965030insAGGAG GRCh37
NC_000001.9:g.195231652_195231653insAGGAG NCBI36
NG_016365.1:g.23363_23364insAGGAG , LRG_227:g.23363_23364insAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.535_535+1insAGGAG ENSP00000514393.1:p.Gln180GlufsTer4
ENST00000699467.1:n.859_859+1insAGGAG
ENST00000699468.1:c.-24-215_-24-214insAGGAG ENSP00000514394.1:n.-24-215_-24-214insAGGAG
ENST00000256785.5:c.790_790+1insAGGAG MANE Select ENSP00000256785.4:p.Gln265GlufsTer4
ENST00000256785.4:c.790_790+1insAGGAG ENSP00000256785.4:p.Gln265GlufsTer4
NM_030787.3:c.790_790+1insAGGAG , LRG_227t1:c.790_790+1insAGGAG NP_110414.1:p.Gln265GlufsTer4
XM_011510020.1:c.799_799+1insAGGAG XP_011508322.1:p.Gln268GlufsTer4
XM_011510020.2:c.799_799+1insAGGAG XP_011508322.1:p.Gln268GlufsTer4
NM_030787.4:c.790_790+1insAGGAG MANE Select NP_110414.1:p.Gln265GlufsTer4
Search 100 bp 5'
Search 100 bp 3'