Canonical Allele Identifier: CA971893664

Gene: FAH

Linked Data

• dbSNP Id: rs2142086202
• gnomAD v3: 15-80152624-GGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
• gnomAD v4: 15-80152624-GGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152632_80152665del , CM000677.2:g.80152632_80152665del	GRCh38
NC_000015.9:g.80444974_80445007del , CM000677.1:g.80444974_80445007del	GRCh37
NC_000015.8:g.78232029_78232062del	NCBI36
NG_012833.1:g.4634_4667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+87_-30+120del	ENSP00000453152.1:n.-30+87_-30+120del