Canonical Allele Identifier: CA2651254834
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502293_241502294insCC , CM000663.2:g.241502293_241502294insCC GRCh38
NC_000001.10:g.241665593_241665594insCC , CM000663.1:g.241665593_241665594insCC GRCh37
NC_000001.9:g.239732216_239732217insCC NCBI36
NG_012338.1:g.22461_22462insGG , LRG_504:g.22461_22462insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1739+149_1739+150insGG
ENST00000682162.1:c.1265+149_1265+150insGG ENSP00000508203.1:n.1265+149_1265+150insGG
ENST00000682567.1:n.2933_2934insGG
ENST00000683521.1:c.1236+149_1236+150insGG ENSP00000506864.1:n.1236+149_1236+150insGG
ENST00000684161.1:n.2451+149_2451+150insGG
ENST00000684483.1:c.*632+149_*632+150insGG ENSP00000507894.1:n.*632+149_*632+150insGG
ENST00000366560.4:c.1236+149_1236+150insGG MANE Select ENSP00000355518.4:n.1236+149_1236+150insGG
ENST00000366560.3:c.1236+149_1236+150insGG ENSP00000355518.3:n.1236+149_1236+150insGG
NM_000143.3:c.1236+149_1236+150insGG , LRG_504t1:c.1236+149_1236+150insGG NP_000134.2:n.1236+149_1236+150insGG
XM_011544132.1:c.1008+149_1008+150insGG XP_011542434.1:n.1008+149_1008+150insGG
XM_011544132.2:c.1008+149_1008+150insGG XP_011542434.1:n.1008+149_1008+150insGG
NM_000143.4:c.1236+149_1236+150insGG MANE Select NP_000134.2:n.1236+149_1236+150insGG