Canonical Allele Identifier: CA2748368431
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512305_241512306insC , CM000663.2:g.241512305_241512306insC GRCh38
NC_000001.10:g.241675605_241675606insC , CM000663.1:g.241675605_241675606insC GRCh37
NC_000001.9:g.239742228_239742229insC NCBI36
NG_012338.1:g.12449_12450insG , LRG_504:g.12449_12450insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-163_882-162insG
ENST00000682162.1:c.408-163_408-162insG ENSP00000508203.1:n.408-163_408-162insG
ENST00000682567.1:n.456-163_456-162insG
ENST00000683521.1:c.379-163_379-162insG ENSP00000506864.1:n.379-163_379-162insG
ENST00000684483.1:c.379-163_379-162insG ENSP00000507894.1:n.379-163_379-162insG
ENST00000366560.4:c.379-163_379-162insG MANE Select ENSP00000355518.4:n.379-163_379-162insG
ENST00000366560.3:c.379-163_379-162insG ENSP00000355518.3:n.379-163_379-162insG
ENST00000497042.1:n.75-163_75-162insG
NM_000143.3:c.379-163_379-162insG , LRG_504t1:c.379-163_379-162insG NP_000134.2:n.379-163_379-162insG
XM_011544132.1:c.151-163_151-162insG XP_011542434.1:n.151-163_151-162insG
XM_011544132.2:c.151-163_151-162insG XP_011542434.1:n.151-163_151-162insG
NM_000143.4:c.379-163_379-162insG MANE Select NP_000134.2:n.379-163_379-162insG