Canonical Allele Identifier: CA2573132924

Gene: FH

Linked Data

• dbSNP Id: rs2147916155

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504126_241504134del , CM000663.2:g.241504126_241504134del	GRCh38
NC_000001.10:g.241667426_241667434del , CM000663.1:g.241667426_241667434del	GRCh37
NC_000001.9:g.239734049_239734057del	NCBI36
NG_012338.1:g.20621_20629del , LRG_504:g.20621_20629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1519_1527del
ENST00000682162.1:c.1045_1053del	ENSP00000508203.1:n.1045_1053del
ENST00000682567.1:n.1093_1101del
ENST00000683521.1:c.1016_1024del	ENSP00000506864.1:p.Ala339_Ile342delinsVal
ENST00000684161.1:n.2231_2239del
ENST00000684483.1:c.*412_*420del	ENSP00000507894.1:n.*412_*420del
ENST00000366560.4:c.1016_1024del MANE Select	ENSP00000355518.4:p.Ala339_Ile342delinsVal
ENST00000366560.3:c.1016_1024del	ENSP00000355518.3:p.Ala339_Ile342delinsVal
NM_000143.3:c.1016_1024del , LRG_504t1:c.1016_1024del	NP_000134.2:p.Ala339_Ile342delinsVal
XM_011544132.1:c.788_796del	XP_011542434.1:p.Ala263_Ile266delinsVal
XM_011544132.2:c.788_796del	XP_011542434.1:p.Ala263_Ile266delinsVal
NM_000143.4:c.1016_1024del MANE Select	NP_000134.2:p.Ala339_Ile342delinsVal