Canonical Allele Identifier: CA16041758

Gene: FAH

Linked Data

• ClinVar Variation Id: 371201
• ClinVar RCV Id: RCV000409747
• dbSNP Id: rs1057517084
• gnomAD v2: 15-80464492-CT-C
• gnomAD v4: 15-80172150-CT-C
• COSMIC: COSM2011614
• MyVariant Identifiers: chr15:g.80464499del (hg19) ; chr15:g.80464493del (hg19) ; chr15:g.80172157del (hg38) ; chr15:g.80172151del (hg38)
• PubMed: PMID:22554029

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172157del , CM000677.2:g.80172157del	GRCh38
NC_000015.9:g.80464499del , CM000677.1:g.80464499del	GRCh37
NC_000015.8:g.78251554del	NCBI36
NG_012833.1:g.24159del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-857del
ENST00000561421.6:c.615del MANE Select	ENSP00000453347.2:p.Phe205LeufsTer2
ENST00000646551.1:n.2234-5del
ENST00000261755.9:c.615del	ENSP00000261755.5:p.Phe205LeufsTer2
ENST00000407106.5:c.615del	ENSP00000385080.1:p.Phe205LeufsTer2
ENST00000539156.5:c.405del	ENSP00000454271.1:p.Phe135LeufsTer2
ENST00000558627.1:n.543del
ENST00000561421.5:c.615del	ENSP00000453347.1:p.Phe205LeufsTer2
NM_000137.2:c.615del	NP_000128.1:p.Phe205LeufsTer2
XM_024449872.1:c.615del	XP_024305640.1:p.Phe205LeufsTer2
NM_000137.4:c.615del MANE Select	NP_000128.1:p.Phe205LeufsTer2
NM_001374377.1:c.615del	NP_001361306.1:p.Phe205LeufsTer2
NM_001374380.1:c.615del	NP_001361309.1:p.Phe205LeufsTer2