Canonical Allele Identifier: CA1147486765

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511940_241511945delinsAAAAAA , CM000663.2:g.241511940_241511945delinsAAAAAA	GRCh38
NC_000001.10:g.241675240_241675245delinsAAAAAA , CM000663.1:g.241675240_241675245delinsAAAAAA	GRCh37
NC_000001.9:g.239741863_239741868delinsAAAAAA	NCBI36
NG_012338.1:g.12810_12815delinsTTTTTT , LRG_504:g.12810_12815delinsTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+22_1058+27delinsTTTTTT
ENST00000682162.1:c.584+22_584+27delinsTTTTTT	ENSP00000508203.1:n.584+22_584+27delinsTTTTTT
ENST00000682567.1:n.632+22_632+27delinsTTTTTT
ENST00000683521.1:c.555+22_555+27delinsTTTTTT	ENSP00000506864.1:n.555+22_555+27delinsTTTTTT
ENST00000684483.1:c.555+22_555+27delinsTTTTTT	ENSP00000507894.1:n.555+22_555+27delinsTTTTTT
ENST00000366560.4:c.555+22_555+27delinsTTTTTT MANE Select	ENSP00000355518.4:n.555+22_555+27delinsTTTTTT
ENST00000366560.3:c.555+22_555+27delinsTTTTTT	ENSP00000355518.3:n.555+22_555+27delinsTTTTTT
ENST00000497042.1:n.273_278delinsTTTTTT
NM_000143.3:c.555+22_555+27delinsTTTTTT , LRG_504t1:c.555+22_555+27delinsTTTTTT	NP_000134.2:n.555+22_555+27delinsTTTTTT
XM_011544132.1:c.327+22_327+27delinsTTTTTT	XP_011542434.1:n.327+22_327+27delinsTTTTTT
XM_011544132.2:c.327+22_327+27delinsTTTTTT	XP_011542434.1:n.327+22_327+27delinsTTTTTT
NM_000143.4:c.555+22_555+27delinsTTTTTT MANE Select	NP_000134.2:n.555+22_555+27delinsTTTTTT