Canonical Allele Identifier: CA2629875316

Gene: FAH

Linked Data

• gnomAD v4: 15-80168182-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168184_80168185del , CM000677.2:g.80168184_80168185del	GRCh38
NC_000015.9:g.80460526_80460527del , CM000677.1:g.80460526_80460527del	GRCh37
NC_000015.8:g.78247581_78247582del	NCBI36
NG_012833.1:g.20186_20187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.663_664del
ENST00000684569.1:n.598+35_598+36del
ENST00000561421.6:c.553+35_553+36del MANE Select	ENSP00000453347.2:n.553+35_553+36del
ENST00000646551.1:n.2180+35_2180+36del
ENST00000261755.9:c.553+35_553+36del	ENSP00000261755.5:n.553+35_553+36del
ENST00000407106.5:c.553+35_553+36del	ENSP00000385080.1:n.553+35_553+36del
ENST00000539156.5:c.343+35_343+36del	ENSP00000454271.1:n.343+35_343+36del
ENST00000558514.1:n.99+35_99+36del
ENST00000558627.1:n.481+35_481+36del
ENST00000561421.5:c.553+35_553+36del	ENSP00000453347.1:n.553+35_553+36del
NM_000137.2:c.553+35_553+36del	NP_000128.1:n.553+35_553+36del
XM_024449872.1:c.553+35_553+36del	XP_024305640.1:n.553+35_553+36del
NM_000137.4:c.553+35_553+36del MANE Select	NP_000128.1:n.553+35_553+36del
NM_001374377.1:c.553+35_553+36del	NP_001361306.1:n.553+35_553+36del
NM_001374380.1:c.553+35_553+36del	NP_001361309.1:n.553+35_553+36del