Canonical Allele Identifier: CA2629872931

Gene: FAH

Linked Data

• gnomAD v4: 15-80152868-TTCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152869_80152872del , CM000677.2:g.80152869_80152872del	GRCh38
NC_000015.9:g.80445211_80445214del , CM000677.1:g.80445211_80445214del	GRCh37
NC_000015.8:g.78232266_78232269del	NCBI36
NG_012833.1:g.4871_4874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-186_-183del	ENSP00000507680.1:n.-186_-183del
ENST00000261755.9:c.-30+28_-30+31del	ENSP00000261755.5:n.-30+28_-30+31del
ENST00000407106.5:c.-66_-63del	ENSP00000385080.1:n.-66_-63del
ENST00000537726.5:n.53+28_53+31del
ENST00000558022.5:c.-29-157_-29-154del	ENSP00000453152.1:n.-29-157_-29-154del
ENST00000558767.5:n.76_79del
ENST00000561369.1:n.15_18del
XM_024449872.1:c.-66_-63del	XP_024305640.1:n.-66_-63del
NM_001374377.1:c.-66_-63del	NP_001361306.1:n.-66_-63del
NM_001374380.1:c.-30+28_-30+31del	NP_001361309.1:n.-30+28_-30+31del