Canonical Allele Identifier: CA2629876566

Gene: FAH

Linked Data

• gnomAD v4: 15-80186232-A-ACAAAGGGCTCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186235_80186247dup , CM000677.2:g.80186235_80186247dup	GRCh38
NC_000015.9:g.80478577_80478589dup , CM000677.1:g.80478577_80478589dup	GRCh37
NC_000015.8:g.78265632_78265644dup	NCBI36
NG_012833.1:g.38237_38249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1375_1387dup
ENST00000561421.6:c.*26_*38dup MANE Select	ENSP00000453347.2:n.*26_*38dup
ENST00000646551.1:n.2900_2912dup
ENST00000261755.9:c.*26_*38dup	ENSP00000261755.5:n.*26_*38dup
ENST00000407106.5:c.*26_*38dup	ENSP00000385080.1:n.*26_*38dup
ENST00000539156.5:c.*26_*38dup	ENSP00000454271.1:n.*26_*38dup
ENST00000559217.1:n.503_515dup
ENST00000561421.5:c.*26_*38dup	ENSP00000453347.1:n.*26_*38dup
NM_000137.2:c.*26_*38dup	NP_000128.1:n.*26_*38dup
XM_024449872.1:c.*26_*38dup	XP_024305640.1:n.*26_*38dup
NM_000137.4:c.*26_*38dup MANE Select	NP_000128.1:n.*26_*38dup
NM_001374377.1:c.*26_*38dup	NP_001361306.1:n.*26_*38dup
NM_001374380.1:c.*26_*38dup	NP_001361309.1:n.*26_*38dup