Canonical Allele Identifier: CA971894409

Gene: FAH

Linked Data

• gnomAD v3: 15-80152839-AGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGC-A
• gnomAD v4: 15-80152839-AGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152843_80152958del , CM000677.2:g.80152843_80152958del	GRCh38
NC_000015.9:g.80445185_80445300del , CM000677.1:g.80445185_80445300del	GRCh37
NC_000015.8:g.78232240_78232355del	NCBI36
NG_012833.1:g.4845_4960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-212_-97del	ENSP00000507680.1:n.-212_-97del
ENST00000261755.9:c.-30+2_-29-68del
ENST00000407106.5:c.-92_-30+53del
ENST00000537726.5:n.53+2_54-68del
ENST00000558022.5:c.-29-183_-29-68del	ENSP00000453152.1:n.-29-183_-29-68del
ENST00000558767.5:n.50_165del
XM_024449872.1:c.-92_-30+53del
NM_001374377.1:c.-92_-30+53del
NM_001374380.1:c.-30+2_-29-68del