Canonical Allele Identifier: CA2629874701

Gene: FAH

Linked Data

• gnomAD v4: 15-80180082-AGCCTGCCGCTGCTCATTCCACCTCGCGTCCATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180089_80180121del , CM000677.2:g.80180089_80180121del	GRCh38
NC_000015.9:g.80472431_80472463del , CM000677.1:g.80472431_80472463del	GRCh37
NC_000015.8:g.78259486_78259518del	NCBI36
NG_012833.1:g.32091_32123del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1050-35_1050-3del
ENST00000561421.6:c.961-35_961-3del MANE Select	ENSP00000453347.2:n.961-35_961-3del
ENST00000646551.1:n.2575-35_2575-3del
ENST00000261755.9:c.961-35_961-3del	ENSP00000261755.5:n.961-35_961-3del
ENST00000407106.5:c.961-35_961-3del	ENSP00000385080.1:n.961-35_961-3del
ENST00000539156.5:c.751-35_751-3del	ENSP00000454271.1:n.751-35_751-3del
ENST00000559217.1:n.178-35_178-3del
ENST00000561353.2:c.59-35_59-3del
ENST00000561421.5:c.961-35_961-3del	ENSP00000453347.1:n.961-35_961-3del
NM_000137.2:c.961-35_961-3del	NP_000128.1:n.961-35_961-3del
XM_024449872.1:c.961-35_961-3del	XP_024305640.1:n.961-35_961-3del
NM_000137.4:c.961-35_961-3del MANE Select	NP_000128.1:n.961-35_961-3del
NM_001374377.1:c.961-35_961-3del	NP_001361306.1:n.961-35_961-3del
NM_001374380.1:c.961-35_961-3del	NP_001361309.1:n.961-35_961-3del