Canonical Allele Identifier: CA16041752

Gene: FAH

Linked Data

• ClinVar Variation Id: 371526
• ClinVar RCV Id: RCV000410365
• dbSNP Id: rs1057517341
• MyVariant Identifiers: chr15:g.80445410del (hg19) ; chr15:g.80153068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153068del , CM000677.2:g.80153068del	GRCh38
NC_000015.9:g.80445410del , CM000677.1:g.80445410del	GRCh37
NC_000015.8:g.78232465del	NCBI36
NG_012833.1:g.5070del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.14del	ENSP00000507680.1:p.Pro5ArgfsTer28
ENST00000682012.1:n.89del
ENST00000684363.1:c.14del	ENSP00000507314.1:p.Pro5ArgfsTer28
ENST00000684569.1:n.59del
ENST00000561421.6:c.14del MANE Select	ENSP00000453347.2:p.Pro5ArgfsTer28
ENST00000261755.9:c.14del	ENSP00000261755.5:p.Pro5ArgfsTer28
ENST00000407106.5:c.14del	ENSP00000385080.1:p.Pro5ArgfsTer28
ENST00000537726.5:n.96del
ENST00000558022.5:c.14del	ENSP00000453152.1:p.Pro5ArgfsTer28
ENST00000558767.5:n.275del
ENST00000561369.1:n.94del
ENST00000561421.5:c.14del	ENSP00000453347.1:p.Pro5ArgfsTer28
NM_000137.2:c.14del	NP_000128.1:p.Pro5ArgfsTer28
XM_024449872.1:c.14del	XP_024305640.1:p.Pro5ArgfsTer28
NM_000137.4:c.14del MANE Select	NP_000128.1:p.Pro5ArgfsTer28
NM_001374377.1:c.14del	NP_001361306.1:p.Pro5ArgfsTer28
NM_001374380.1:c.14del	NP_001361309.1:p.Pro5ArgfsTer28