Canonical Allele Identifier: CA2831039382

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180141_80180145delinsAGGGAAA , CM000677.2:g.80180141_80180145delinsAGGGAAA	GRCh38
NC_000015.9:g.80472483_80472487delinsAGGGAAA , CM000677.1:g.80472483_80472487delinsAGGGAAA	GRCh37
NC_000015.8:g.78259538_78259542delinsAGGGAAA	NCBI36
NG_012833.1:g.32143_32147delinsAGGGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1067_1071delinsAGGGAAA
ENST00000561421.6:c.978_982delinsAGGGAAA MANE Select	ENSP00000453347.2:p.Met326IlefsTer?
ENST00000646551.1:n.2592_2596delinsAGGGAAA
ENST00000261755.9:c.978_982delinsAGGGAAA	ENSP00000261755.5:p.Met326IlefsTer?
ENST00000407106.5:c.978_982delinsAGGGAAA	ENSP00000385080.1:p.Met326IlefsTer?
ENST00000539156.5:c.768_772delinsAGGGAAA	ENSP00000454271.1:p.Met256IlefsTer?
ENST00000559217.1:n.195_199delinsAGGGAAA
ENST00000561353.2:c.76_80delinsAGGGAAA
ENST00000561421.5:c.978_982delinsAGGGAAA	ENSP00000453347.1:p.Met326IlefsTer?
NM_000137.2:c.978_982delinsAGGGAAA	NP_000128.1:p.Met326IlefsTer?
XM_024449872.1:c.978_982delinsAGGGAAA	XP_024305640.1:p.Met326IlefsTer?
NM_000137.4:c.978_982delinsAGGGAAA MANE Select	NP_000128.1:p.Met326IlefsTer?
NM_001374377.1:c.978_982delinsAGGGAAA	NP_001361306.1:p.Met326IlefsTer?
NM_001374380.1:c.978_982delinsAGGGAAA	NP_001361309.1:p.Met326IlefsTer?