Canonical Allele Identifier: CA971893142

Gene: FAH

Linked Data

• dbSNP Id: rs2041054447
• gnomAD v3: 15-80152508-GGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA-G
• gnomAD v4: 15-80152508-GGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152514_80152580del , CM000677.2:g.80152514_80152580del	GRCh38
NC_000015.9:g.80444856_80444922del , CM000677.1:g.80444856_80444922del	GRCh37
NC_000015.8:g.78231911_78231977del	NCBI36
NG_012833.1:g.4516_4582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-61_-30+35del