Canonical Allele Identifier: CA2580613299

Gene: FAH

Linked Data

• ClinVar Variation Id: 2503886
• ClinVar RCV Id: RCV003230877

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168282_80168287delinsTCCAA , CM000677.2:g.80168282_80168287delinsTCCAA	GRCh38
NC_000015.9:g.80460624_80460629delinsTCCAA , CM000677.1:g.80460624_80460629delinsTCCAA	GRCh37
NC_000015.8:g.78247679_78247684delinsTCCAA	NCBI36
NG_012833.1:g.20284_20289delinsTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.761_766delinsTCCAA
ENST00000684569.1:n.617_622delinsTCCAA
ENST00000561421.6:c.572_577delinsTCCAA MANE Select	ENSP00000453347.2:p.Gly191ValfsTer16
ENST00000646551.1:n.2199_2204delinsTCCAA
ENST00000261755.9:c.572_577delinsTCCAA	ENSP00000261755.5:p.Gly191ValfsTer16
ENST00000407106.5:c.572_577delinsTCCAA	ENSP00000385080.1:p.Gly191ValfsTer16
ENST00000539156.5:c.362_367delinsTCCAA	ENSP00000454271.1:p.Gly121ValfsTer16
ENST00000558514.1:n.118_123delinsTCCAA
ENST00000558627.1:n.500_505delinsTCCAA
ENST00000561421.5:c.572_577delinsTCCAA	ENSP00000453347.1:p.Gly191ValfsTer16
NM_000137.2:c.572_577delinsTCCAA	NP_000128.1:p.Gly191ValfsTer16
XM_024449872.1:c.572_577delinsTCCAA	XP_024305640.1:p.Gly191ValfsTer16
NM_000137.4:c.572_577delinsTCCAA MANE Select	NP_000128.1:p.Gly191ValfsTer16
NM_001374377.1:c.572_577delinsTCCAA	NP_001361306.1:p.Gly191ValfsTer16
NM_001374380.1:c.572_577delinsTCCAA	NP_001361309.1:p.Gly191ValfsTer16