Canonical Allele Identifier: CA2190310052

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80179808_80179809delinsGA , CM000677.2:g.80179808_80179809delinsGA	GRCh38
NC_000015.9:g.80472150_80472151delinsGA , CM000677.1:g.80472150_80472151delinsGA	GRCh37
NC_000015.8:g.78259205_78259206delinsGA	NCBI36
NG_012833.1:g.31810_31811delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-316_1050-315delinsGA
ENST00000561421.6:c.961-316_961-315delinsGA MANE Select	ENSP00000453347.2:n.961-316_961-315delinsGA
ENST00000646551.1:n.2575-316_2575-315delinsGA
ENST00000261755.9:c.961-316_961-315delinsGA	ENSP00000261755.5:n.961-316_961-315delinsGA
ENST00000407106.5:c.961-316_961-315delinsGA	ENSP00000385080.1:n.961-316_961-315delinsGA
ENST00000539156.5:c.751-316_751-315delinsGA	ENSP00000454271.1:n.751-316_751-315delinsGA
ENST00000559217.1:n.178-316_178-315delinsGA
ENST00000561353.2:c.59-316_59-315delinsGA
ENST00000561421.5:c.961-316_961-315delinsGA	ENSP00000453347.1:n.961-316_961-315delinsGA
NM_000137.2:c.961-316_961-315delinsGA	NP_000128.1:n.961-316_961-315delinsGA
XM_024449872.1:c.961-316_961-315delinsGA	XP_024305640.1:n.961-316_961-315delinsGA
NM_000137.4:c.961-316_961-315delinsGA MANE Select	NP_000128.1:n.961-316_961-315delinsGA
NM_001374377.1:c.961-316_961-315delinsGA	NP_001361306.1:n.961-316_961-315delinsGA
NM_001374380.1:c.961-316_961-315delinsGA	NP_001361309.1:n.961-316_961-315delinsGA