Canonical Allele Identifier: CA1229582212
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512438_241512439delinsTG , CM000663.2:g.241512438_241512439delinsTG GRCh38
NC_000001.10:g.241675738_241675739delinsTG , CM000663.1:g.241675738_241675739delinsTG GRCh37
NC_000001.9:g.239742361_239742362delinsTG NCBI36
NG_012338.1:g.12316_12317delinsCA , LRG_504:g.12316_12317delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-296_882-295delinsCA
ENST00000682162.1:c.408-296_408-295delinsCA ENSP00000508203.1:n.408-296_408-295delinsCA
ENST00000682567.1:n.456-296_456-295delinsCA
ENST00000683521.1:c.379-296_379-295delinsCA ENSP00000506864.1:n.379-296_379-295delinsCA
ENST00000684483.1:c.379-296_379-295delinsCA ENSP00000507894.1:n.379-296_379-295delinsCA
ENST00000366560.4:c.379-296_379-295delinsCA MANE Select ENSP00000355518.4:n.379-296_379-295delinsCA
ENST00000366560.3:c.379-296_379-295delinsCA ENSP00000355518.3:n.379-296_379-295delinsCA
ENST00000497042.1:n.75-296_75-295delinsCA
NM_000143.3:c.379-296_379-295delinsCA , LRG_504t1:c.379-296_379-295delinsCA NP_000134.2:n.379-296_379-295delinsCA
XM_011544132.1:c.151-296_151-295delinsCA XP_011542434.1:n.151-296_151-295delinsCA
XM_011544132.2:c.151-296_151-295delinsCA XP_011542434.1:n.151-296_151-295delinsCA
NM_000143.4:c.379-296_379-295delinsCA MANE Select NP_000134.2:n.379-296_379-295delinsCA