Canonical Allele Identifier: CA1229578286
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502833_241502834delinsTA , CM000663.2:g.241502833_241502834delinsTA GRCh38
NC_000001.10:g.241666133_241666134delinsTA , CM000663.1:g.241666133_241666134delinsTA GRCh37
NC_000001.9:g.239732756_239732757delinsTA NCBI36
NG_012338.1:g.21921_21922delinsTA , LRG_504:g.21921_21922delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-264_1612-263delinsTA
ENST00000682162.1:c.1138-264_1138-263delinsTA ENSP00000508203.1:n.1138-264_1138-263delinsTA
ENST00000682567.1:n.2393_2394delinsTA
ENST00000683521.1:c.1109-264_1109-263delinsTA ENSP00000506864.1:n.1109-264_1109-263delinsTA
ENST00000684161.1:n.2324-264_2324-263delinsTA
ENST00000684483.1:c.*505-264_*505-263delinsTA ENSP00000507894.1:n.*505-264_*505-263delinsTA
ENST00000366560.4:c.1109-264_1109-263delinsTA MANE Select ENSP00000355518.4:n.1109-264_1109-263delinsTA
ENST00000366560.3:c.1109-264_1109-263delinsTA ENSP00000355518.3:n.1109-264_1109-263delinsTA
NM_000143.3:c.1109-264_1109-263delinsTA , LRG_504t1:c.1109-264_1109-263delinsTA NP_000134.2:n.1109-264_1109-263delinsTA
XM_011544132.1:c.881-264_881-263delinsTA XP_011542434.1:n.881-264_881-263delinsTA
XM_011544132.2:c.881-264_881-263delinsTA XP_011542434.1:n.881-264_881-263delinsTA
NM_000143.4:c.1109-264_1109-263delinsTA MANE Select NP_000134.2:n.1109-264_1109-263delinsTA