Canonical Allele Identifier: CA2629875141

Gene: FAH

Linked Data

• gnomAD v4: 15-80168083-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168088_80168090del , CM000677.2:g.80168088_80168090del	GRCh38
NC_000015.9:g.80460430_80460432del , CM000677.1:g.80460430_80460432del	GRCh37
NC_000015.8:g.78247485_78247487del	NCBI36
NG_012833.1:g.20090_20092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.567_569del
ENST00000684569.1:n.537_539del
ENST00000561421.6:c.492_494del MANE Select	ENSP00000453347.2:p.Ser165del
ENST00000646551.1:n.2119_2121del
ENST00000261755.9:c.492_494del	ENSP00000261755.5:p.Ser165del
ENST00000407106.5:c.492_494del	ENSP00000385080.1:p.Ser165del
ENST00000539156.5:c.282_284del	ENSP00000454271.1:p.Ser95del
ENST00000558514.1:n.38_40del
ENST00000558627.1:n.420_422del
ENST00000561421.5:c.492_494del	ENSP00000453347.1:p.Ser165del
NM_000137.2:c.492_494del	NP_000128.1:p.Ser165del
XM_024449872.1:c.492_494del	XP_024305640.1:p.Ser165del
NM_000137.4:c.492_494del MANE Select	NP_000128.1:p.Ser165del
NM_001374377.1:c.492_494del	NP_001361306.1:p.Ser165del
NM_001374380.1:c.492_494del	NP_001361309.1:p.Ser165del