Canonical Allele Identifier: CA1229578781

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504063_241504067delinsGTTCA , CM000663.2:g.241504063_241504067delinsGTTCA	GRCh38
NC_000001.10:g.241667363_241667367delinsGTTCA , CM000663.1:g.241667363_241667367delinsGTTCA	GRCh37
NC_000001.9:g.239733986_239733990delinsGTTCA	NCBI36
NG_012338.1:g.20688_20692delinsTGAAC , LRG_504:g.20688_20692delinsTGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1586_1590delinsTGAAC
ENST00000682162.1:c.1112_1116delinsTGAAC	ENSP00000508203.1:n.1112_1116delinsTGAAC
ENST00000682567.1:n.1160_1164delinsTGAAC
ENST00000683521.1:c.1083_1087delinsTGAAC	ENSP00000506864.1:p.Asn361=
ENST00000684161.1:n.2298_2302delinsTGAAC
ENST00000684483.1:c.*479_*483delinsTGAAC	ENSP00000507894.1:n.*479_*483delinsTGAAC
ENST00000366560.4:c.1083_1087delinsTGAAC MANE Select	ENSP00000355518.4:p.Asn361=
ENST00000366560.3:c.1083_1087delinsTGAAC	ENSP00000355518.3:p.Asn361=
NM_000143.3:c.1083_1087delinsTGAAC , LRG_504t1:c.1083_1087delinsTGAAC	NP_000134.2:p.Asn361=
XM_011544132.1:c.855_859delinsTGAAC	XP_011542434.1:p.Asn285=
XM_011544132.2:c.855_859delinsTGAAC	XP_011542434.1:p.Asn285=
NM_000143.4:c.1083_1087delinsTGAAC MANE Select	NP_000134.2:p.Asn361=