Canonical Allele Identifier: CA2651255649
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517317_241517318insA , CM000663.2:g.241517317_241517318insA GRCh38
NC_000001.10:g.241680617_241680618insA , CM000663.1:g.241680617_241680618insA GRCh37
NC_000001.9:g.239747240_239747241insA NCBI36
NG_012338.1:g.7437_7438insT , LRG_504:g.7437_7438insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.636-2_636-1insT
ENST00000682162.1:c.162-2_162-1insT ENSP00000508203.1:n.162-2_162-1insT
ENST00000682567.1:n.210-2_210-1insT
ENST00000683521.1:c.133-2_133-1insT ENSP00000506864.1:n.133-2_133-1insT
ENST00000684483.1:c.133-2_133-1insT ENSP00000507894.1:n.133-2_133-1insT
ENST00000366560.4:c.133-2_133-1insT MANE Select ENSP00000355518.4:n.133-2_133-1insT
ENST00000366560.3:c.133-2_133-1insT ENSP00000355518.3:n.133-2_133-1insT
ENST00000493477.1:n.246-2_246-1insT
NM_000143.3:c.133-2_133-1insT , LRG_504t1:c.133-2_133-1insT NP_000134.2:n.133-2_133-1insT
XM_011544132.1:c.-96-2_-96-1insT XP_011542434.1:n.-96-2_-96-1insT
XM_011544132.2:c.-96-2_-96-1insT XP_011542434.1:n.-96-2_-96-1insT
NM_000143.4:c.133-2_133-1insT MANE Select NP_000134.2:n.133-2_133-1insT