Canonical Allele Identifier: CA2190317956

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186113_80186116delinsGTCC , CM000677.2:g.80186113_80186116delinsGTCC	GRCh38
NC_000015.9:g.80478455_80478458delinsGTCC , CM000677.1:g.80478455_80478458delinsGTCC	GRCh37
NC_000015.8:g.78265510_78265513delinsGTCC	NCBI36
NG_012833.1:g.38115_38118delinsGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-17_1270-14delinsGTCC
ENST00000561421.6:c.1181-17_1181-14delinsGTCC MANE Select	ENSP00000453347.2:n.1181-17_1181-14delinsGTCC
ENST00000646551.1:n.2795-17_2795-14delinsGTCC
ENST00000261755.9:c.1181-17_1181-14delinsGTCC	ENSP00000261755.5:n.1181-17_1181-14delinsGTCC
ENST00000407106.5:c.1181-17_1181-14delinsGTCC	ENSP00000385080.1:n.1181-17_1181-14delinsGTCC
ENST00000539156.5:c.971-17_971-14delinsGTCC	ENSP00000454271.1:n.971-17_971-14delinsGTCC
ENST00000559217.1:n.398-17_398-14delinsGTCC
ENST00000561421.5:c.1181-17_1181-14delinsGTCC	ENSP00000453347.1:n.1181-17_1181-14delinsGTCC
NM_000137.2:c.1181-17_1181-14delinsGTCC	NP_000128.1:n.1181-17_1181-14delinsGTCC
XM_024449872.1:c.1181-17_1181-14delinsGTCC	XP_024305640.1:n.1181-17_1181-14delinsGTCC
NM_000137.4:c.1181-17_1181-14delinsGTCC MANE Select	NP_000128.1:n.1181-17_1181-14delinsGTCC
NM_001374377.1:c.1181-17_1181-14delinsGTCC	NP_001361306.1:n.1181-17_1181-14delinsGTCC
NM_001374380.1:c.1181-17_1181-14delinsGTCC	NP_001361309.1:n.1181-17_1181-14delinsGTCC