Canonical Allele Identifier: CA2629878537

Gene: FAH

Linked Data

• gnomAD v4: 15-80162499-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162502_80162504del , CM000677.2:g.80162502_80162504del	GRCh38
NC_000015.9:g.80454844_80454846del , CM000677.1:g.80454844_80454846del	GRCh37
NC_000015.8:g.78241899_78241901del	NCBI36
NG_012833.1:g.14504_14506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*138_*140del	ENSP00000507680.1:n.*138_*140del
ENST00000682012.1:n.530+166_530+168del
ENST00000683593.1:n.2284_2286del
ENST00000684363.1:c.475_477del	ENSP00000507314.1:n.475_477del
ENST00000684569.1:n.500+166_500+168del
ENST00000561421.6:c.455+166_455+168del MANE Select	ENSP00000453347.2:n.455+166_455+168del
ENST00000646551.1:n.1942+166_1942+168del
ENST00000261755.9:c.455+166_455+168del	ENSP00000261755.5:n.455+166_455+168del
ENST00000407106.5:c.455+166_455+168del	ENSP00000385080.1:n.455+166_455+168del
ENST00000537726.5:n.767_769del
ENST00000539156.5:c.245+166_245+168del	ENSP00000454271.1:n.245+166_245+168del
ENST00000558022.5:c.455+166_455+168del	ENSP00000453152.1:n.455+166_455+168del
ENST00000558627.1:n.383+166_383+168del
ENST00000558767.5:n.882_884del
ENST00000561421.5:c.455+166_455+168del	ENSP00000453347.1:n.455+166_455+168del
NM_000137.2:c.455+166_455+168del	NP_000128.1:n.455+166_455+168del
XM_024449872.1:c.455+166_455+168del	XP_024305640.1:n.455+166_455+168del
NM_000137.4:c.455+166_455+168del MANE Select	NP_000128.1:n.455+166_455+168del
NM_001374377.1:c.455+166_455+168del	NP_001361306.1:n.455+166_455+168del
NM_001374380.1:c.455+166_455+168del	NP_001361309.1:n.455+166_455+168del