Canonical Allele Identifier: CA2575809728

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80167975_80167976insATTTTGAAG , CM000677.2:g.80167975_80167976insATTTTGAAG	GRCh38
NC_000015.9:g.80460317_80460318insATTTTGAAG , CM000677.1:g.80460317_80460318insATTTTGAAG	GRCh37
NC_000015.8:g.78247372_78247373insATTTTGAAG	NCBI36
NG_012833.1:g.19977_19978insATTTTGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-77_531-76insATTTTGAAG
ENST00000684569.1:n.501-77_501-76insATTTTGAAG
ENST00000561421.6:c.456-77_456-76insATTTTGAAG MANE Select	ENSP00000453347.2:n.456-77_456-76insATTTTGAAG
ENST00000646551.1:n.2083-77_2083-76insATTTTGAAG
ENST00000261755.9:c.456-77_456-76insATTTTGAAG	ENSP00000261755.5:n.456-77_456-76insATTTTGAAG
ENST00000407106.5:c.456-77_456-76insATTTTGAAG	ENSP00000385080.1:n.456-77_456-76insATTTTGAAG
ENST00000539156.5:c.246-77_246-76insATTTTGAAG	ENSP00000454271.1:n.246-77_246-76insATTTTGAAG
ENST00000558022.5:c.456-77_456-76insATTTTGAAG	ENSP00000453152.1:n.456-77_456-76insATTTTGAAG
ENST00000558627.1:n.384-77_384-76insATTTTGAAG
ENST00000561421.5:c.456-77_456-76insATTTTGAAG	ENSP00000453347.1:n.456-77_456-76insATTTTGAAG
NM_000137.2:c.456-77_456-76insATTTTGAAG	NP_000128.1:n.456-77_456-76insATTTTGAAG
XM_024449872.1:c.456-77_456-76insATTTTGAAG	XP_024305640.1:n.456-77_456-76insATTTTGAAG
NM_000137.4:c.456-77_456-76insATTTTGAAG MANE Select	NP_000128.1:n.456-77_456-76insATTTTGAAG
NM_001374377.1:c.456-77_456-76insATTTTGAAG	NP_001361306.1:n.456-77_456-76insATTTTGAAG
NM_001374380.1:c.456-77_456-76insATTTTGAAG	NP_001361309.1:n.456-77_456-76insATTTTGAAG