Canonical Allele Identifier: CA2190336441

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80167936_80167937delinsAT , CM000677.2:g.80167936_80167937delinsAT	GRCh38
NC_000015.9:g.80460278_80460279delinsAT , CM000677.1:g.80460278_80460279delinsAT	GRCh37
NC_000015.8:g.78247333_78247334delinsAT	NCBI36
NG_012833.1:g.19938_19939delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-116_531-115delinsAT
ENST00000684569.1:n.501-116_501-115delinsAT
ENST00000561421.6:c.456-116_456-115delinsAT MANE Select	ENSP00000453347.2:n.456-116_456-115delinsAT
ENST00000646551.1:n.2083-116_2083-115delinsAT
ENST00000261755.9:c.456-116_456-115delinsAT	ENSP00000261755.5:n.456-116_456-115delinsAT
ENST00000407106.5:c.456-116_456-115delinsAT	ENSP00000385080.1:n.456-116_456-115delinsAT
ENST00000539156.5:c.246-116_246-115delinsAT	ENSP00000454271.1:n.246-116_246-115delinsAT
ENST00000558022.5:c.456-116_456-115delinsAT	ENSP00000453152.1:n.456-116_456-115delinsAT
ENST00000558627.1:n.384-116_384-115delinsAT
ENST00000561421.5:c.456-116_456-115delinsAT	ENSP00000453347.1:n.456-116_456-115delinsAT
NM_000137.2:c.456-116_456-115delinsAT	NP_000128.1:n.456-116_456-115delinsAT
XM_024449872.1:c.456-116_456-115delinsAT	XP_024305640.1:n.456-116_456-115delinsAT
NM_000137.4:c.456-116_456-115delinsAT MANE Select	NP_000128.1:n.456-116_456-115delinsAT
NM_001374377.1:c.456-116_456-115delinsAT	NP_001361306.1:n.456-116_456-115delinsAT
NM_001374380.1:c.456-116_456-115delinsAT	NP_001361309.1:n.456-116_456-115delinsAT