Canonical Allele Identifier: CA619266151

Gene: FAH

Linked Data

• dbSNP Id: rs1239196285
• gnomAD v2: 15-80444983-GGGGAGGGGCGGGGCTCA-G
• gnomAD v3: 15-80152641-GGGGAGGGGCGGGGCTCA-G
• gnomAD v4: 15-80152641-GGGGAGGGGCGGGGCTCA-G
• MyVariant Identifiers: chr15:g.80444984_80445000del (hg19) ; chr15:g.80152642_80152658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152649_80152665del , CM000677.2:g.80152649_80152665del	GRCh38
NC_000015.9:g.80444991_80445007del , CM000677.1:g.80444991_80445007del	GRCh37
NC_000015.8:g.78232046_78232062del	NCBI36
NG_012833.1:g.4651_4667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+104_-30+120del	ENSP00000453152.1:n.-30+104_-30+120del