Canonical Allele Identifier: CA2629874576

Gene: FAH

Linked Data

• gnomAD v4: 15-80180058-AGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180061_80180063del , CM000677.2:g.80180061_80180063del	GRCh38
NC_000015.9:g.80472403_80472405del , CM000677.1:g.80472403_80472405del	GRCh37
NC_000015.8:g.78259458_78259460del	NCBI36
NG_012833.1:g.32063_32065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-63_1050-61del
ENST00000561421.6:c.961-63_961-61del MANE Select	ENSP00000453347.2:n.961-63_961-61del
ENST00000646551.1:n.2575-63_2575-61del
ENST00000261755.9:c.961-63_961-61del	ENSP00000261755.5:n.961-63_961-61del
ENST00000407106.5:c.961-63_961-61del	ENSP00000385080.1:n.961-63_961-61del
ENST00000539156.5:c.751-63_751-61del	ENSP00000454271.1:n.751-63_751-61del
ENST00000559217.1:n.178-63_178-61del
ENST00000561353.2:c.59-63_59-61del
ENST00000561421.5:c.961-63_961-61del	ENSP00000453347.1:n.961-63_961-61del
NM_000137.2:c.961-63_961-61del	NP_000128.1:n.961-63_961-61del
XM_024449872.1:c.961-63_961-61del	XP_024305640.1:n.961-63_961-61del
NM_000137.4:c.961-63_961-61del MANE Select	NP_000128.1:n.961-63_961-61del
NM_001374377.1:c.961-63_961-61del	NP_001361306.1:n.961-63_961-61del
NM_001374380.1:c.961-63_961-61del	NP_001361309.1:n.961-63_961-61del