Canonical Allele Identifier: CA1229578843

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504204_241504206delinsCCA , CM000663.2:g.241504204_241504206delinsCCA	GRCh38
NC_000001.10:g.241667504_241667506delinsCCA , CM000663.1:g.241667504_241667506delinsCCA	GRCh37
NC_000001.9:g.239734127_239734129delinsCCA	NCBI36
NG_012338.1:g.20549_20551delinsTGG , LRG_504:g.20549_20551delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1447_1449delinsTGG
ENST00000682162.1:c.973_975delinsTGG	ENSP00000508203.1:n.973_975delinsTGG
ENST00000682567.1:n.1021_1023delinsTGG
ENST00000683521.1:c.944_946delinsTGG	ENSP00000506864.1:p.Leu315=
ENST00000684161.1:n.2159_2161delinsTGG
ENST00000684483.1:c.*340_*342delinsTGG	ENSP00000507894.1:n.*340_*342delinsTGG
ENST00000366560.4:c.944_946delinsTGG MANE Select	ENSP00000355518.4:p.Leu315=
ENST00000366560.3:c.944_946delinsTGG	ENSP00000355518.3:p.Leu315=
NM_000143.3:c.944_946delinsTGG , LRG_504t1:c.944_946delinsTGG	NP_000134.2:p.Leu315=
XM_011544132.1:c.716_718delinsTGG	XP_011542434.1:p.Leu239=
XM_011544132.2:c.716_718delinsTGG	XP_011542434.1:p.Leu239=
NM_000143.4:c.944_946delinsTGG MANE Select	NP_000134.2:p.Leu315=