Canonical Allele Identifier: CA971894448

Gene: FAH

Linked Data

• gnomAD v3: 15-80152851-AGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGC-A
• gnomAD v4: 15-80152851-AGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152857_80152972del , CM000677.2:g.80152857_80152972del	GRCh38
NC_000015.9:g.80445199_80445314del , CM000677.1:g.80445199_80445314del	GRCh37
NC_000015.8:g.78232254_78232369del	NCBI36
NG_012833.1:g.4859_4974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-198_-83del	ENSP00000507680.1:n.-198_-83del
ENST00000261755.9:c.-30+16_-29-54del	ENSP00000261755.5:n.-30+16_-29-54del
ENST00000407106.5:c.-78_-29-54del
ENST00000537726.5:n.53+16_54-54del
ENST00000558022.5:c.-29-169_-29-54del	ENSP00000453152.1:n.-29-169_-29-54del
ENST00000558767.5:n.64_179del
XM_024449872.1:c.-78_-29-54del
NM_001374377.1:c.-78_-29-54del
NM_001374380.1:c.-30+16_-29-54del	NP_001361309.1:n.-30+16_-29-54del