Canonical Allele Identifier: CA716105787

Gene: FAH

Linked Data

• ClinVar Variation Id: 2094547
• ClinVar RCV Id: RCV003025514
• dbSNP Id: rs1274857072
• MyVariant Identifiers: chr15:g.80454682_80454686del (hg19) ; chr15:g.80162340_80162344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162342_80162346del , CM000677.2:g.80162342_80162346del	GRCh38
NC_000015.9:g.80454684_80454688del , CM000677.1:g.80454684_80454688del	GRCh37
NC_000015.8:g.78241739_78241743del	NCBI36
NG_012833.1:g.14344_14348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.461_465del	ENSP00000507680.1:p.Glu154GlyfsTer28
ENST00000682012.1:n.530+6_530+10del
ENST00000683593.1:n.2124_2128del
ENST00000684363.1:c.365-50_365-46del	ENSP00000507314.1:n.365-50_365-46del
ENST00000684569.1:n.500+6_500+10del
ENST00000561421.6:c.455+6_455+10del MANE Select	ENSP00000453347.2:n.455+6_455+10del
ENST00000646551.1:n.1942+6_1942+10del
ENST00000261755.9:c.455+6_455+10del	ENSP00000261755.5:n.455+6_455+10del
ENST00000407106.5:c.455+6_455+10del	ENSP00000385080.1:n.455+6_455+10del
ENST00000537726.5:n.607_611del
ENST00000539156.5:c.245+6_245+10del	ENSP00000454271.1:n.245+6_245+10del
ENST00000558022.5:c.455+6_455+10del	ENSP00000453152.1:n.455+6_455+10del
ENST00000558627.1:n.383+6_383+10del
ENST00000558767.5:n.722_726del
ENST00000561369.1:n.605_609del
ENST00000561421.5:c.455+6_455+10del	ENSP00000453347.1:n.455+6_455+10del
NM_000137.2:c.455+6_455+10del	NP_000128.1:n.455+6_455+10del
XM_024449872.1:c.455+6_455+10del	XP_024305640.1:n.455+6_455+10del
NM_000137.4:c.455+6_455+10del MANE Select	NP_000128.1:n.455+6_455+10del
NM_001374377.1:c.455+6_455+10del	NP_001361306.1:n.455+6_455+10del
NM_001374380.1:c.455+6_455+10del	NP_001361309.1:n.455+6_455+10del