Canonical Allele Identifier: CA2190327732

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152960_80152961delinsAG , CM000677.2:g.80152960_80152961delinsAG	GRCh38
NC_000015.9:g.80445302_80445303delinsAG , CM000677.1:g.80445302_80445303delinsAG	GRCh37
NC_000015.8:g.78232357_78232358delinsAG	NCBI36
NG_012833.1:g.4962_4963delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-95_-94delinsAG	ENSP00000507680.1:n.-95_-94delinsAG
ENST00000261755.9:c.-29-66_-29-65delinsAG	ENSP00000261755.5:n.-29-66_-29-65delinsAG
ENST00000407106.5:c.-30+55_-30+56delinsAG	ENSP00000385080.1:n.-30+55_-30+56delinsAG
ENST00000537726.5:n.54-66_54-65delinsAG
ENST00000558022.5:c.-29-66_-29-65delinsAG	ENSP00000453152.1:n.-29-66_-29-65delinsAG
ENST00000558767.5:n.167_168delinsAG
ENST00000561369.1:n.51+55_51+56delinsAG
ENST00000561421.5:c.-95_-94delinsAG	ENSP00000453347.1:n.-95_-94delinsAG
NM_000137.2:c.-95_-94delinsAG	NP_000128.1:n.-95_-94delinsAG
XM_024449872.1:c.-30+55_-30+56delinsAG	XP_024305640.1:n.-30+55_-30+56delinsAG
NM_001374377.1:c.-30+55_-30+56delinsAG	NP_001361306.1:n.-30+55_-30+56delinsAG
NM_001374380.1:c.-29-66_-29-65delinsAG	NP_001361309.1:n.-29-66_-29-65delinsAG