Canonical Allele Identifier: CA2697549251

Gene: FAH

Linked Data

• ClinVar Variation Id: 2725733
• ClinVar RCV Id: RCV003518499

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162244_80162280dup , CM000677.2:g.80162244_80162280dup	GRCh38
NC_000015.9:g.80454586_80454622dup , CM000677.1:g.80454586_80454622dup	GRCh37
NC_000015.8:g.78241641_78241677dup	NCBI36
NG_012833.1:g.14246_14282dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.365-2_399dup
ENST00000682012.1:n.440-2_474dup
ENST00000683593.1:n.2026_2062dup
ENST00000684363.1:c.365-148_365-112dup	ENSP00000507314.1:n.365-148_365-112dup
ENST00000684569.1:n.410-2_444dup
ENST00000561421.6:c.365-2_399dup
ENST00000646551.1:n.1852-2_1886dup
ENST00000261755.9:c.365-2_399dup
ENST00000407106.5:c.365-2_399dup
ENST00000537726.5:n.511-2_545dup
ENST00000539156.5:c.155-2_189dup
ENST00000558022.5:c.365-2_399dup
ENST00000558627.1:n.293-2_327dup
ENST00000558767.5:n.626-2_660dup
ENST00000561369.1:n.509-2_543dup
ENST00000561421.5:c.365-2_399dup
NM_000137.2:c.365-2_399dup
XM_024449872.1:c.365-2_399dup
NM_000137.4:c.365-2_399dup
NM_001374377.1:c.365-2_399dup
NM_001374380.1:c.365-2_399dup