Canonical Allele Identifier: CA2575809745

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168322_80168323del , CM000677.2:g.80168322_80168323del	GRCh38
NC_000015.9:g.80460664_80460665del , CM000677.1:g.80460664_80460665del	GRCh37
NC_000015.8:g.78247719_78247720del	NCBI36
NG_012833.1:g.20324_20325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+6_795+7del
ENST00000684569.1:n.651+6_651+7del
ENST00000561421.6:c.606+6_606+7del MANE Select	ENSP00000453347.2:n.606+6_606+7del
ENST00000646551.1:n.2233+6_2233+7del
ENST00000261755.9:c.606+6_606+7del	ENSP00000261755.5:n.606+6_606+7del
ENST00000407106.5:c.606+6_606+7del	ENSP00000385080.1:n.606+6_606+7del
ENST00000539156.5:c.396+6_396+7del	ENSP00000454271.1:n.396+6_396+7del
ENST00000558514.1:n.158_159del
ENST00000558627.1:n.534+6_534+7del
ENST00000561421.5:c.606+6_606+7del	ENSP00000453347.1:n.606+6_606+7del
NM_000137.2:c.606+6_606+7del	NP_000128.1:n.606+6_606+7del
XM_024449872.1:c.606+6_606+7del	XP_024305640.1:n.606+6_606+7del
NM_000137.4:c.606+6_606+7del MANE Select	NP_000128.1:n.606+6_606+7del
NM_001374377.1:c.606+6_606+7del	NP_001361306.1:n.606+6_606+7del
NM_001374380.1:c.606+6_606+7del	NP_001361309.1:n.606+6_606+7del