Canonical Allele Identifier: CA1229581918

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511756_241511757delinsAT , CM000663.2:g.241511756_241511757delinsAT	GRCh38
NC_000001.10:g.241675056_241675057delinsAT , CM000663.1:g.241675056_241675057delinsAT	GRCh37
NC_000001.9:g.239741679_239741680delinsAT	NCBI36
NG_012338.1:g.12998_12999delinsAT , LRG_504:g.12998_12999delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+210_1058+211delinsAT
ENST00000682162.1:c.584+210_584+211delinsAT	ENSP00000508203.1:n.584+210_584+211delinsAT
ENST00000682567.1:n.632+210_632+211delinsAT
ENST00000683521.1:c.555+210_555+211delinsAT	ENSP00000506864.1:n.555+210_555+211delinsAT
ENST00000684483.1:c.555+210_555+211delinsAT	ENSP00000507894.1:n.555+210_555+211delinsAT
ENST00000366560.4:c.555+210_555+211delinsAT MANE Select	ENSP00000355518.4:n.555+210_555+211delinsAT
ENST00000366560.3:c.555+210_555+211delinsAT	ENSP00000355518.3:n.555+210_555+211delinsAT
NM_000143.3:c.555+210_555+211delinsAT , LRG_504t1:c.555+210_555+211delinsAT	NP_000134.2:n.555+210_555+211delinsAT
XM_011544132.1:c.327+210_327+211delinsAT	XP_011542434.1:n.327+210_327+211delinsAT
XM_011544132.2:c.327+210_327+211delinsAT	XP_011542434.1:n.327+210_327+211delinsAT
NM_000143.4:c.555+210_555+211delinsAT MANE Select	NP_000134.2:n.555+210_555+211delinsAT