Canonical Allele Identifier: CA1229582702

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513664_241513665delinsAC , CM000663.2:g.241513664_241513665delinsAC	GRCh38
NC_000001.10:g.241676964_241676965delinsAC , CM000663.1:g.241676964_241676965delinsAC	GRCh37
NC_000001.9:g.239743587_239743588delinsAC	NCBI36
NG_012338.1:g.11090_11091delinsGT , LRG_504:g.11090_11091delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.819_820delinsGT
ENST00000682162.1:c.345_346delinsGT	ENSP00000508203.1:n.345_346delinsGT
ENST00000682567.1:n.393_394delinsGT
ENST00000683521.1:c.316_317delinsGT	ENSP00000506864.1:p.Val106=
ENST00000684483.1:c.316_317delinsGT	ENSP00000507894.1:p.Val106=
ENST00000366560.4:c.316_317delinsGT MANE Select	ENSP00000355518.4:p.Val106=
ENST00000366560.3:c.316_317delinsGT	ENSP00000355518.3:p.Val106=
ENST00000497042.1:n.12_13delinsGT
NM_000143.3:c.316_317delinsGT , LRG_504t1:c.316_317delinsGT	NP_000134.2:p.Val106=
XM_011544132.1:c.88_89delinsGT	XP_011542434.1:p.Val30=
XM_011544132.2:c.88_89delinsGT	XP_011542434.1:p.Val30=
NM_000143.4:c.316_317delinsGT MANE Select	NP_000134.2:p.Val106=