Canonical Allele Identifier: CA2629876356

Gene: FAH

Linked Data

• gnomAD v4: 15-80186053-GGCACTGCCGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186056_80186066del , CM000677.2:g.80186056_80186066del	GRCh38
NC_000015.9:g.80478398_80478408del , CM000677.1:g.80478398_80478408del	GRCh37
NC_000015.8:g.78265453_78265463del	NCBI36
NG_012833.1:g.38058_38068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-74_1270-64del
ENST00000561421.6:c.1181-74_1181-64del MANE Select	ENSP00000453347.2:n.1181-74_1181-64del
ENST00000646551.1:n.2795-74_2795-64del
ENST00000261755.9:c.1181-74_1181-64del	ENSP00000261755.5:n.1181-74_1181-64del
ENST00000407106.5:c.1181-74_1181-64del	ENSP00000385080.1:n.1181-74_1181-64del
ENST00000539156.5:c.971-74_971-64del	ENSP00000454271.1:n.971-74_971-64del
ENST00000559217.1:n.398-74_398-64del
ENST00000561421.5:c.1181-74_1181-64del	ENSP00000453347.1:n.1181-74_1181-64del
NM_000137.2:c.1181-74_1181-64del	NP_000128.1:n.1181-74_1181-64del
XM_024449872.1:c.1181-74_1181-64del	XP_024305640.1:n.1181-74_1181-64del
NM_000137.4:c.1181-74_1181-64del MANE Select	NP_000128.1:n.1181-74_1181-64del
NM_001374377.1:c.1181-74_1181-64del	NP_001361306.1:n.1181-74_1181-64del
NM_001374380.1:c.1181-74_1181-64del	NP_001361309.1:n.1181-74_1181-64del