Canonical Allele Identifier: CA2629874558

Gene: FAH

Linked Data

• gnomAD v4: 15-80180054-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180054_80180055insGCC , CM000677.2:g.80180054_80180055insGCC	GRCh38
NC_000015.9:g.80472396_80472397insGCC , CM000677.1:g.80472396_80472397insGCC	GRCh37
NC_000015.8:g.78259451_78259452insGCC	NCBI36
NG_012833.1:g.32056_32057insGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-70_1050-69insGCC
ENST00000561421.6:c.961-70_961-69insGCC MANE Select	ENSP00000453347.2:n.961-70_961-69insGCC
ENST00000646551.1:n.2575-70_2575-69insGCC
ENST00000261755.9:c.961-70_961-69insGCC	ENSP00000261755.5:n.961-70_961-69insGCC
ENST00000407106.5:c.961-70_961-69insGCC	ENSP00000385080.1:n.961-70_961-69insGCC
ENST00000539156.5:c.751-70_751-69insGCC	ENSP00000454271.1:n.751-70_751-69insGCC
ENST00000559217.1:n.178-70_178-69insGCC
ENST00000561353.2:c.59-70_59-69insGCC
ENST00000561421.5:c.961-70_961-69insGCC	ENSP00000453347.1:n.961-70_961-69insGCC
NM_000137.2:c.961-70_961-69insGCC	NP_000128.1:n.961-70_961-69insGCC
XM_024449872.1:c.961-70_961-69insGCC	XP_024305640.1:n.961-70_961-69insGCC
NM_000137.4:c.961-70_961-69insGCC MANE Select	NP_000128.1:n.961-70_961-69insGCC
NM_001374377.1:c.961-70_961-69insGCC	NP_001361306.1:n.961-70_961-69insGCC
NM_001374380.1:c.961-70_961-69insGCC	NP_001361309.1:n.961-70_961-69insGCC