Canonical Allele Identifier: CA2629874484

Gene: FAH

Linked Data

• gnomAD v4: 15-80180045-G-GGGGGGGGGGGGGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180045_80180046insGGGGGGGGGGGGGCCC , CM000677.2:g.80180045_80180046insGGGGGGGGGGGGGCCC	GRCh38
NC_000015.9:g.80472387_80472388insGGGGGGGGGGGGGCCC , CM000677.1:g.80472387_80472388insGGGGGGGGGGGGGCCC	GRCh37
NC_000015.8:g.78259442_78259443insGGGGGGGGGGGGGCCC	NCBI36
NG_012833.1:g.32047_32048insGGGGGGGGGGGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-79_1050-78insGGGGGGGGGGGGGCCC
ENST00000561421.6:c.961-79_961-78insGGGGGGGGGGGGGCCC MANE Select	ENSP00000453347.2:n.961-79_961-78insGGGGGGGGGGGGGCCC
ENST00000646551.1:n.2575-79_2575-78insGGGGGGGGGGGGGCCC
ENST00000261755.9:c.961-79_961-78insGGGGGGGGGGGGGCCC	ENSP00000261755.5:n.961-79_961-78insGGGGGGGGGGGGGCCC
ENST00000407106.5:c.961-79_961-78insGGGGGGGGGGGGGCCC	ENSP00000385080.1:n.961-79_961-78insGGGGGGGGGGGGGCCC
ENST00000539156.5:c.751-79_751-78insGGGGGGGGGGGGGCCC	ENSP00000454271.1:n.751-79_751-78insGGGGGGGGGGGGGCCC
ENST00000559217.1:n.178-79_178-78insGGGGGGGGGGGGGCCC
ENST00000561353.2:c.59-79_59-78insGGGGGGGGGGGGGCCC
ENST00000561421.5:c.961-79_961-78insGGGGGGGGGGGGGCCC	ENSP00000453347.1:n.961-79_961-78insGGGGGGGGGGGGGCCC
NM_000137.2:c.961-79_961-78insGGGGGGGGGGGGGCCC	NP_000128.1:n.961-79_961-78insGGGGGGGGGGGGGCCC
XM_024449872.1:c.961-79_961-78insGGGGGGGGGGGGGCCC	XP_024305640.1:n.961-79_961-78insGGGGGGGGGGGGGCCC
NM_000137.4:c.961-79_961-78insGGGGGGGGGGGGGCCC MANE Select	NP_000128.1:n.961-79_961-78insGGGGGGGGGGGGGCCC
NM_001374377.1:c.961-79_961-78insGGGGGGGGGGGGGCCC	NP_001361306.1:n.961-79_961-78insGGGGGGGGGGGGGCCC
NM_001374380.1:c.961-79_961-78insGGGGGGGGGGGGGCCC	NP_001361309.1:n.961-79_961-78insGGGGGGGGGGGGGCCC