Canonical Allele Identifier: CA2629874422

Gene: FAH

Linked Data

• gnomAD v4: 15-80180037-T-TGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180038_80180039insGGGGGG , CM000677.2:g.80180038_80180039insGGGGGG	GRCh38
NC_000015.9:g.80472380_80472381insGGGGGG , CM000677.1:g.80472380_80472381insGGGGGG	GRCh37
NC_000015.8:g.78259435_78259436insGGGGGG	NCBI36
NG_012833.1:g.32040_32041insGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-86_1050-85insGGGGGG
ENST00000561421.6:c.961-86_961-85insGGGGGG MANE Select	ENSP00000453347.2:n.961-86_961-85insGGGGGG
ENST00000646551.1:n.2575-86_2575-85insGGGGGG
ENST00000261755.9:c.961-86_961-85insGGGGGG	ENSP00000261755.5:n.961-86_961-85insGGGGGG
ENST00000407106.5:c.961-86_961-85insGGGGGG	ENSP00000385080.1:n.961-86_961-85insGGGGGG
ENST00000539156.5:c.751-86_751-85insGGGGGG	ENSP00000454271.1:n.751-86_751-85insGGGGGG
ENST00000559217.1:n.178-86_178-85insGGGGGG
ENST00000561353.2:c.59-86_59-85insGGGGGG
ENST00000561421.5:c.961-86_961-85insGGGGGG	ENSP00000453347.1:n.961-86_961-85insGGGGGG
NM_000137.2:c.961-86_961-85insGGGGGG	NP_000128.1:n.961-86_961-85insGGGGGG
XM_024449872.1:c.961-86_961-85insGGGGGG	XP_024305640.1:n.961-86_961-85insGGGGGG
NM_000137.4:c.961-86_961-85insGGGGGG MANE Select	NP_000128.1:n.961-86_961-85insGGGGGG
NM_001374377.1:c.961-86_961-85insGGGGGG	NP_001361306.1:n.961-86_961-85insGGGGGG
NM_001374380.1:c.961-86_961-85insGGGGGG	NP_001361309.1:n.961-86_961-85insGGGGGG