Canonical Allele Identifier: CA2190328112

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153088_80153094delinsTTCCCCA , CM000677.2:g.80153088_80153094delinsTTCCCCA	GRCh38
NC_000015.9:g.80445430_80445436delinsTTCCCCA , CM000677.1:g.80445430_80445436delinsTTCCCCA	GRCh37
NC_000015.8:g.78232485_78232491delinsTTCCCCA	NCBI36
NG_012833.1:g.5090_5096delinsTTCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.34_40delinsTTCCCCA	ENSP00000507680.1:p.Phe12=
ENST00000682012.1:n.109_115delinsTTCCCCA
ENST00000684363.1:c.34_40delinsTTCCCCA	ENSP00000507314.1:p.Phe12=
ENST00000684569.1:n.79_85delinsTTCCCCA
ENST00000561421.6:c.34_40delinsTTCCCCA MANE Select	ENSP00000453347.2:p.Phe12=
ENST00000261755.9:c.34_40delinsTTCCCCA	ENSP00000261755.5:p.Phe12=
ENST00000407106.5:c.34_40delinsTTCCCCA	ENSP00000385080.1:p.Phe12=
ENST00000537726.5:n.116_122delinsTTCCCCA
ENST00000558022.5:c.34_40delinsTTCCCCA	ENSP00000453152.1:p.Phe12=
ENST00000558767.5:n.295_301delinsTTCCCCA
ENST00000561369.1:n.114_120delinsTTCCCCA
ENST00000561421.5:c.34_40delinsTTCCCCA	ENSP00000453347.1:p.Phe12=
NM_000137.2:c.34_40delinsTTCCCCA	NP_000128.1:p.Phe12=
XM_024449872.1:c.34_40delinsTTCCCCA	XP_024305640.1:p.Phe12=
NM_000137.4:c.34_40delinsTTCCCCA MANE Select	NP_000128.1:p.Phe12=
NM_001374377.1:c.34_40delinsTTCCCCA	NP_001361306.1:p.Phe12=
NM_001374380.1:c.34_40delinsTTCCCCA	NP_001361309.1:p.Phe12=