Canonical Allele Identifier: CA2740096741

Gene: FAH

Linked Data

• ClinVar Variation Id: 2998364
• ClinVar RCV Id: RCV003857027

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180196del , CM000677.2:g.80180196del	GRCh38
NC_000015.9:g.80472538del , CM000677.1:g.80472538del	GRCh37
NC_000015.8:g.78259593del	NCBI36
NG_012833.1:g.32198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1122del
ENST00000561421.6:c.1033del MANE Select	ENSP00000453347.2:p.Leu345SerfsTer29
ENST00000646551.1:n.2647del
ENST00000261755.9:c.1033del	ENSP00000261755.5:p.Leu345SerfsTer29
ENST00000407106.5:c.1033del	ENSP00000385080.1:p.Leu345SerfsTer29
ENST00000539156.5:c.823del	ENSP00000454271.1:p.Leu275SerfsTer29
ENST00000559217.1:n.250del
ENST00000561353.2:c.131del
ENST00000561421.5:c.1033del	ENSP00000453347.1:p.Leu345SerfsTer29
NM_000137.2:c.1033del	NP_000128.1:p.Leu345SerfsTer29
XM_024449872.1:c.1033del	XP_024305640.1:p.Leu345SerfsTer29
NM_000137.4:c.1033del MANE Select	NP_000128.1:p.Leu345SerfsTer29
NM_001374377.1:c.1033del	NP_001361306.1:p.Leu345SerfsTer29
NM_001374380.1:c.1033del	NP_001361309.1:p.Leu345SerfsTer29