Canonical Allele Identifier: CA1229582156
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs1660107931

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512277_241512285del , CM000663.2:g.241512277_241512285del GRCh38
NC_000001.10:g.241675577_241675585del , CM000663.1:g.241675577_241675585del GRCh37
NC_000001.9:g.239742200_239742208del NCBI36
NG_012338.1:g.12472_12480del , LRG_504:g.12472_12480del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-140_882-132del
ENST00000682162.1:c.408-140_408-132del ENSP00000508203.1:n.408-140_408-132del
ENST00000682567.1:n.456-140_456-132del
ENST00000683521.1:c.379-140_379-132del ENSP00000506864.1:n.379-140_379-132del
ENST00000684483.1:c.379-140_379-132del ENSP00000507894.1:n.379-140_379-132del
ENST00000366560.4:c.379-140_379-132del MANE Select ENSP00000355518.4:n.379-140_379-132del
ENST00000366560.3:c.379-140_379-132del ENSP00000355518.3:n.379-140_379-132del
ENST00000497042.1:n.75-140_75-132del
NM_000143.3:c.379-140_379-132del , LRG_504t1:c.379-140_379-132del NP_000134.2:n.379-140_379-132del
XM_011544132.1:c.151-140_151-132del XP_011542434.1:n.151-140_151-132del
XM_011544132.2:c.151-140_151-132del XP_011542434.1:n.151-140_151-132del
NM_000143.4:c.379-140_379-132del MANE Select NP_000134.2:n.379-140_379-132del