Canonical Allele Identifier: CA716102557

Gene: FAH

Linked Data

• dbSNP Id: rs1333222658
• gnomAD v3: 15-80152810-CTG-C
• gnomAD v4: 15-80152810-CTG-C
• MyVariant Identifiers: chr15:g.80445153_80445154del (hg19) ; chr15:g.80152811_80152812del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152813_80152814del , CM000677.2:g.80152813_80152814del	GRCh38
NC_000015.9:g.80445155_80445156del , CM000677.1:g.80445155_80445156del	GRCh37
NC_000015.8:g.78232210_78232211del	NCBI36
NG_012833.1:g.4815_4816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-242_-241del	ENSP00000507680.1:n.-242_-241del
ENST00000261755.9:c.-58_-57del	ENSP00000261755.5:n.-58_-57del
ENST00000407106.5:c.-122_-121del	ENSP00000385080.1:n.-122_-121del
ENST00000537726.5:n.25_26del
ENST00000558022.5:c.-29-213_-29-212del	ENSP00000453152.1:n.-29-213_-29-212del
ENST00000558767.5:n.20_21del
NM_001374377.1:c.-122_-121del	NP_001361306.1:n.-122_-121del
NM_001374380.1:c.-58_-57del	NP_001361309.1:n.-58_-57del