Canonical Allele Identifier: CA2629876054

Gene: FAH

Linked Data

• gnomAD v4: 15-80168568-TGGGCATGTGTGGACATGCGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168574_80168594del , CM000677.2:g.80168574_80168594del	GRCh38
NC_000015.9:g.80460916_80460936del , CM000677.1:g.80460916_80460936del	GRCh37
NC_000015.8:g.78247971_78247991del	NCBI36
NG_012833.1:g.20576_20596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+258_795+278del
ENST00000684569.1:n.651+258_651+278del
ENST00000561421.6:c.606+258_606+278del MANE Select	ENSP00000453347.2:n.606+258_606+278del
ENST00000646551.1:n.2233+258_2233+278del
ENST00000261755.9:c.606+258_606+278del	ENSP00000261755.5:n.606+258_606+278del
ENST00000407106.5:c.606+258_606+278del	ENSP00000385080.1:n.606+258_606+278del
ENST00000539156.5:c.396+258_396+278del	ENSP00000454271.1:n.396+258_396+278del
ENST00000558627.1:n.534+258_534+278del
ENST00000561421.5:c.606+258_606+278del	ENSP00000453347.1:n.606+258_606+278del
NM_000137.2:c.606+258_606+278del	NP_000128.1:n.606+258_606+278del
XM_024449872.1:c.606+258_606+278del	XP_024305640.1:n.606+258_606+278del
NM_000137.4:c.606+258_606+278del MANE Select	NP_000128.1:n.606+258_606+278del
NM_001374377.1:c.606+258_606+278del	NP_001361306.1:n.606+258_606+278del
NM_001374380.1:c.606+258_606+278del	NP_001361309.1:n.606+258_606+278del