Canonical Allele Identifier: CA2629878284

Gene: FAH

Linked Data

• gnomAD v4: 15-80162310-CAAGGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162313_80162318del , CM000677.2:g.80162313_80162318del	GRCh38
NC_000015.9:g.80454655_80454660del , CM000677.1:g.80454655_80454660del	GRCh37
NC_000015.8:g.78241710_78241715del	NCBI36
NG_012833.1:g.14315_14320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.432_437del	ENSP00000507680.1:p.Lys144_Glu145del
ENST00000682012.1:n.507_512del
ENST00000683593.1:n.2095_2100del
ENST00000684363.1:c.365-79_365-74del	ENSP00000507314.1:n.365-79_365-74del
ENST00000684569.1:n.477_482del
ENST00000561421.6:c.432_437del MANE Select	ENSP00000453347.2:p.Lys144_Glu145del
ENST00000646551.1:n.1919_1924del
ENST00000261755.9:c.432_437del	ENSP00000261755.5:p.Lys144_Glu145del
ENST00000407106.5:c.432_437del	ENSP00000385080.1:p.Lys144_Glu145del
ENST00000537726.5:n.578_583del
ENST00000539156.5:c.222_227del	ENSP00000454271.1:p.Lys74_Glu75del
ENST00000558022.5:c.432_437del	ENSP00000453152.1:p.Lys144_Glu145del
ENST00000558627.1:n.360_365del
ENST00000558767.5:n.693_698del
ENST00000561369.1:n.576_581del
ENST00000561421.5:c.432_437del	ENSP00000453347.1:p.Lys144_Glu145del
NM_000137.2:c.432_437del	NP_000128.1:p.Lys144_Glu145del
XM_024449872.1:c.432_437del	XP_024305640.1:p.Lys144_Glu145del
NM_000137.4:c.432_437del MANE Select	NP_000128.1:p.Lys144_Glu145del
NM_001374377.1:c.432_437del	NP_001361306.1:p.Lys144_Glu145del
NM_001374380.1:c.432_437del	NP_001361309.1:p.Lys144_Glu145del