Canonical Allele Identifier: CA2651254906
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502595_241502596del , CM000663.2:g.241502595_241502596del GRCh38
NC_000001.10:g.241665895_241665896del , CM000663.1:g.241665895_241665896del GRCh37
NC_000001.9:g.239732518_239732519del NCBI36
NG_012338.1:g.22161_22162del , LRG_504:g.22161_22162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-24_1612-23del
ENST00000682162.1:c.1138-24_1138-23del ENSP00000508203.1:n.1138-24_1138-23del
ENST00000682567.1:n.2633_2634del
ENST00000683521.1:c.1109-24_1109-23del ENSP00000506864.1:n.1109-24_1109-23del
ENST00000684161.1:n.2324-24_2324-23del
ENST00000684483.1:c.*505-24_*505-23del ENSP00000507894.1:n.*505-24_*505-23del
ENST00000366560.4:c.1109-24_1109-23del MANE Select ENSP00000355518.4:n.1109-24_1109-23del
ENST00000366560.3:c.1109-24_1109-23del ENSP00000355518.3:n.1109-24_1109-23del
NM_000143.3:c.1109-24_1109-23del , LRG_504t1:c.1109-24_1109-23del NP_000134.2:n.1109-24_1109-23del
XM_011544132.1:c.881-24_881-23del XP_011542434.1:n.881-24_881-23del
XM_011544132.2:c.881-24_881-23del XP_011542434.1:n.881-24_881-23del
NM_000143.4:c.1109-24_1109-23del MANE Select NP_000134.2:n.1109-24_1109-23del