Canonical Allele Identifier: CA2580063475

Gene: FH

Linked Data

• ClinVar Variation Id: 1776810
• ClinVar RCV Id: RCV002401268

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517286_241517288del , CM000663.2:g.241517286_241517288del	GRCh38
NC_000001.10:g.241680586_241680588del , CM000663.1:g.241680586_241680588del	GRCh37
NC_000001.9:g.239747209_239747211del	NCBI36
NG_012338.1:g.7469_7471del , LRG_504:g.7469_7471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.666_668del
ENST00000682162.1:c.192_194del	ENSP00000508203.1:n.192_194del
ENST00000682567.1:n.240_242del
ENST00000683521.1:c.163_165del	ENSP00000506864.1:p.Asp55del
ENST00000684483.1:c.163_165del	ENSP00000507894.1:p.Asp55del
ENST00000366560.4:c.163_165del MANE Select	ENSP00000355518.4:p.Asp55del
ENST00000366560.3:c.163_165del	ENSP00000355518.3:p.Asp55del
ENST00000493477.1:n.276_278del
NM_000143.3:c.163_165del , LRG_504t1:c.163_165del	NP_000134.2:p.Asp55del
XM_011544132.1:c.-66_-64del	XP_011542434.1:n.-66_-64del
XM_011544132.2:c.-66_-64del	XP_011542434.1:n.-66_-64del
NM_000143.4:c.163_165del MANE Select	NP_000134.2:p.Asp55del