Canonical Allele Identifier: CA2580090054

Gene: FAH

Linked Data

• ClinVar Variation Id: 1705590
• ClinVar RCV Id: RCV002283904

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159784_80159801del , CM000677.2:g.80159784_80159801del	GRCh38
NC_000015.9:g.80452126_80452143del , CM000677.1:g.80452126_80452143del	GRCh37
NC_000015.8:g.78239181_78239198del	NCBI36
NG_012833.1:g.11786_11803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.221_238del	ENSP00000507680.1:p.Gly74_Lys79del
ENST00000682012.1:n.296_313del
ENST00000683593.1:n.98_115del
ENST00000684363.1:c.221_238del	ENSP00000507314.1:p.Gly74_Lys79del
ENST00000684569.1:n.266_283del
ENST00000561421.6:c.221_238del MANE Select	ENSP00000453347.2:p.Gly74_Lys79del
ENST00000646551.1:n.1708_1725del
ENST00000261755.9:c.221_238del	ENSP00000261755.5:p.Gly74_Lys79del
ENST00000407106.5:c.221_238del	ENSP00000385080.1:p.Gly74_Lys79del
ENST00000537726.5:n.303_320del
ENST00000539156.5:c.11_28del	ENSP00000454271.1:p.Gly4_Lys9del
ENST00000558022.5:c.221_238del	ENSP00000453152.1:p.Gly74_Lys79del
ENST00000558767.5:n.482_499del
ENST00000561369.1:n.301_318del
ENST00000561421.5:c.221_238del	ENSP00000453347.1:p.Gly74_Lys79del
NM_000137.2:c.221_238del	NP_000128.1:p.Gly74_Lys79del
XM_024449872.1:c.221_238del	XP_024305640.1:p.Gly74_Lys79del
NM_000137.4:c.221_238del MANE Select	NP_000128.1:p.Gly74_Lys79del
NM_001374377.1:c.221_238del	NP_001361306.1:p.Gly74_Lys79del
NM_001374380.1:c.221_238del	NP_001361309.1:p.Gly74_Lys79del