Canonical Allele Identifier: CA1229578107
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502420_241502421delinsTA , CM000663.2:g.241502420_241502421delinsTA GRCh38
NC_000001.10:g.241665720_241665721delinsTA , CM000663.1:g.241665720_241665721delinsTA GRCh37
NC_000001.9:g.239732343_239732344delinsTA NCBI36
NG_012338.1:g.22334_22335delinsTA , LRG_504:g.22334_22335delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1739+22_1739+23delinsTA
ENST00000682162.1:c.1265+22_1265+23delinsTA ENSP00000508203.1:n.1265+22_1265+23delinsTA
ENST00000682567.1:n.2806_2807delinsTA
ENST00000683521.1:c.1236+22_1236+23delinsTA ENSP00000506864.1:n.1236+22_1236+23delinsTA
ENST00000684161.1:n.2451+22_2451+23delinsTA
ENST00000684483.1:c.*632+22_*632+23delinsTA ENSP00000507894.1:n.*632+22_*632+23delinsTA
ENST00000366560.4:c.1236+22_1236+23delinsTA MANE Select ENSP00000355518.4:n.1236+22_1236+23delinsTA
ENST00000366560.3:c.1236+22_1236+23delinsTA ENSP00000355518.3:n.1236+22_1236+23delinsTA
NM_000143.3:c.1236+22_1236+23delinsTA , LRG_504t1:c.1236+22_1236+23delinsTA NP_000134.2:n.1236+22_1236+23delinsTA
XM_011544132.1:c.1008+22_1008+23delinsTA XP_011542434.1:n.1008+22_1008+23delinsTA
XM_011544132.2:c.1008+22_1008+23delinsTA XP_011542434.1:n.1008+22_1008+23delinsTA
NM_000143.4:c.1236+22_1236+23delinsTA MANE Select NP_000134.2:n.1236+22_1236+23delinsTA