Canonical Allele Identifier: CA912992776

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80460490_80460492del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168148_80168150del , CM000677.2:g.80168148_80168150del	GRCh38
NC_000015.9:g.80460490_80460492del , CM000677.1:g.80460490_80460492del	GRCh37
NC_000015.8:g.78247545_78247547del	NCBI36
NG_012833.1:g.20150_20152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.627_629del
ENST00000684569.1:n.597_598+1del
ENST00000561421.6:c.552_553+1del
ENST00000646551.1:n.2179_2180+1del
ENST00000261755.9:c.552_553+1del
ENST00000407106.5:c.552_553+1del
ENST00000539156.5:c.342_343+1del
ENST00000558514.1:n.98_99+1del
ENST00000558627.1:n.480_481+1del
ENST00000561421.5:c.552_553+1del
NM_000137.2:c.552_553+1del
XM_024449872.1:c.552_553+1del
NM_000137.4:c.552_553+1del
NM_001374377.1:c.552_553+1del
NM_001374380.1:c.552_553+1del