Canonical Allele Identifier: CA1229582047

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512037_241512038delinsAT , CM000663.2:g.241512037_241512038delinsAT	GRCh38
NC_000001.10:g.241675337_241675338delinsAT , CM000663.1:g.241675337_241675338delinsAT	GRCh37
NC_000001.9:g.239741960_239741961delinsAT	NCBI36
NG_012338.1:g.12717_12718delinsAT , LRG_504:g.12717_12718delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.987_988delinsAT
ENST00000682162.1:c.513_514delinsAT	ENSP00000508203.1:n.513_514delinsAT
ENST00000682567.1:n.561_562delinsAT
ENST00000683521.1:c.484_485delinsAT	ENSP00000506864.1:p.Ile162=
ENST00000684483.1:c.484_485delinsAT	ENSP00000507894.1:p.Ile162=
ENST00000366560.4:c.484_485delinsAT MANE Select	ENSP00000355518.4:p.Ile162=
ENST00000366560.3:c.484_485delinsAT	ENSP00000355518.3:p.Ile162=
ENST00000497042.1:n.180_181delinsAT
NM_000143.3:c.484_485delinsAT , LRG_504t1:c.484_485delinsAT	NP_000134.2:p.Ile162=
XM_011544132.1:c.256_257delinsAT	XP_011542434.1:p.Ile86=
XM_011544132.2:c.256_257delinsAT	XP_011542434.1:p.Ile86=
NM_000143.4:c.484_485delinsAT MANE Select	NP_000134.2:p.Ile162=