Canonical Allele Identifier: CA2629878371

Gene: FAH

Linked Data

• gnomAD v4: 15-80162368-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162370_80162371del , CM000677.2:g.80162370_80162371del	GRCh38
NC_000015.9:g.80454712_80454713del , CM000677.1:g.80454712_80454713del	GRCh37
NC_000015.8:g.78241767_78241768del	NCBI36
NG_012833.1:g.14372_14373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*6_*7del	ENSP00000507680.1:n.*6_*7del
ENST00000682012.1:n.530+34_530+35del
ENST00000683593.1:n.2152_2153del
ENST00000684363.1:c.365-22_365-21del	ENSP00000507314.1:n.365-22_365-21del
ENST00000684569.1:n.500+34_500+35del
ENST00000561421.6:c.455+34_455+35del MANE Select	ENSP00000453347.2:n.455+34_455+35del
ENST00000646551.1:n.1942+34_1942+35del
ENST00000261755.9:c.455+34_455+35del	ENSP00000261755.5:n.455+34_455+35del
ENST00000407106.5:c.455+34_455+35del	ENSP00000385080.1:n.455+34_455+35del
ENST00000537726.5:n.635_636del
ENST00000539156.5:c.245+34_245+35del	ENSP00000454271.1:n.245+34_245+35del
ENST00000558022.5:c.455+34_455+35del	ENSP00000453152.1:n.455+34_455+35del
ENST00000558627.1:n.383+34_383+35del
ENST00000558767.5:n.750_751del
ENST00000561369.1:n.633_634del
ENST00000561421.5:c.455+34_455+35del	ENSP00000453347.1:n.455+34_455+35del
NM_000137.2:c.455+34_455+35del	NP_000128.1:n.455+34_455+35del
XM_024449872.1:c.455+34_455+35del	XP_024305640.1:n.455+34_455+35del
NM_000137.4:c.455+34_455+35del MANE Select	NP_000128.1:n.455+34_455+35del
NM_001374377.1:c.455+34_455+35del	NP_001361306.1:n.455+34_455+35del
NM_001374380.1:c.455+34_455+35del	NP_001361309.1:n.455+34_455+35del