Canonical Allele Identifier: CA2629872488

Gene: FAH

Linked Data

• gnomAD v4: 15-80152570-G-GATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152570_80152571insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA , CM000677.2:g.80152570_80152571insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA	GRCh38
NC_000015.9:g.80444912_80444913insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA , CM000677.1:g.80444912_80444913insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA	GRCh37
NC_000015.8:g.78231967_78231968insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA	NCBI36
NG_012833.1:g.4572_4573insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+25_-30+26insATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTA	ENSP00000453152.1:n.-30+25_-30+26insATGGAGGCTTGTGCCATTTTTCTCT...