Canonical Allele Identifier: CA2190326586

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152508_80152658delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA , CM000677.2:g.80152508_80152658delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA	GRCh38
NC_000015.9:g.80444850_80445000delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA , CM000677.1:g.80444850_80445000delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA	GRCh37
NC_000015.8:g.78231905_78232055delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA	NCBI36
NG_012833.1:g.4510_4660delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-67_-30+113delinsGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA