Canonical Allele Identifier: CA733640101

Gene: FH

Linked Data

• dbSNP Id: rs1225932568
• MyVariant Identifiers: chr1:g.241671907_241671908insGAT (hg19) ; chr1:g.241508607_241508608insGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508607_241508608insGAT , CM000663.2:g.241508607_241508608insGAT	GRCh38
NC_000001.10:g.241671907_241671908insGAT , CM000663.1:g.241671907_241671908insGAT	GRCh37
NC_000001.9:g.239738530_239738531insGAT	NCBI36
NG_012338.1:g.16147_16148insATC , LRG_504:g.16147_16148insATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1236_1237insATC
ENST00000682162.1:c.762_763insATC	ENSP00000508203.1:n.762_763insATC
ENST00000682567.1:n.810_811insATC
ENST00000683521.1:c.733_734insATC	ENSP00000506864.1:p.Gly245delinsAspArg
ENST00000684161.1:n.1948_1949insATC
ENST00000684483.1:c.*129_*130insATC	ENSP00000507894.1:n.*129_*130insATC
ENST00000366560.4:c.733_734insATC MANE Select	ENSP00000355518.4:p.Gly245delinsAspArg
ENST00000366560.3:c.733_734insATC	ENSP00000355518.3:p.Gly245delinsAspArg
NM_000143.3:c.733_734insATC , LRG_504t1:c.733_734insATC	NP_000134.2:p.Gly245delinsAspArg
XM_011544132.1:c.505_506insATC	XP_011542434.1:p.Gly169delinsAspArg
XM_011544132.2:c.505_506insATC	XP_011542434.1:p.Gly169delinsAspArg
NM_000143.4:c.733_734insATC MANE Select	NP_000134.2:p.Gly245delinsAspArg