Canonical Allele Identifier: CA1229580612

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508603_241508604delinsCT , CM000663.2:g.241508603_241508604delinsCT	GRCh38
NC_000001.10:g.241671903_241671904delinsCT , CM000663.1:g.241671903_241671904delinsCT	GRCh37
NC_000001.9:g.239738526_239738527delinsCT	NCBI36
NG_012338.1:g.16151_16152delinsAG , LRG_504:g.16151_16152delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1240_1241delinsAG
ENST00000682162.1:c.766_767delinsAG	ENSP00000508203.1:n.766_767delinsAG
ENST00000682567.1:n.814_815delinsAG
ENST00000683521.1:c.737_738delinsAG	ENSP00000506864.1:p.Gln246=
ENST00000684161.1:n.1952_1953delinsAG
ENST00000684483.1:c.*133_*134delinsAG	ENSP00000507894.1:n.*133_*134delinsAG
ENST00000366560.4:c.737_738delinsAG MANE Select	ENSP00000355518.4:p.Gln246=
ENST00000366560.3:c.737_738delinsAG	ENSP00000355518.3:p.Gln246=
NM_000143.3:c.737_738delinsAG , LRG_504t1:c.737_738delinsAG	NP_000134.2:p.Gln246=
XM_011544132.1:c.509_510delinsAG	XP_011542434.1:p.Gln170=
XM_011544132.2:c.509_510delinsAG	XP_011542434.1:p.Gln170=
NM_000143.4:c.737_738delinsAG MANE Select	NP_000134.2:p.Gln246=