Canonical Allele Identifier: CA619266248

Gene: FAH

Linked Data

• dbSNP Id: rs1465203494
• gnomAD v2: 15-80445508-GGGGA-G
• gnomAD v4: 15-80153166-GGGGA-G
• MyVariant Identifiers: chr15:g.80445509_80445512del (hg19) ; chr15:g.80153167_80153170del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153172_80153175del , CM000677.2:g.80153172_80153175del	GRCh38
NC_000015.9:g.80445514_80445517del , CM000677.1:g.80445514_80445517del	GRCh37
NC_000015.8:g.78232569_78232572del	NCBI36
NG_012833.1:g.5174_5177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+37_81+40del	ENSP00000507680.1:n.81+37_81+40del
ENST00000682012.1:n.156+37_156+40del
ENST00000684363.1:c.81+37_81+40del	ENSP00000507314.1:n.81+37_81+40del
ENST00000684569.1:n.126+37_126+40del
ENST00000561421.6:c.81+37_81+40del MANE Select	ENSP00000453347.2:n.81+37_81+40del
ENST00000261755.9:c.81+37_81+40del	ENSP00000261755.5:n.81+37_81+40del
ENST00000407106.5:c.81+37_81+40del	ENSP00000385080.1:n.81+37_81+40del
ENST00000537726.5:n.163+37_163+40del
ENST00000558022.5:c.81+37_81+40del	ENSP00000453152.1:n.81+37_81+40del
ENST00000558767.5:n.342+37_342+40del
ENST00000561369.1:n.161+37_161+40del
ENST00000561421.5:c.81+37_81+40del	ENSP00000453347.1:n.81+37_81+40del
NM_000137.2:c.81+37_81+40del	NP_000128.1:n.81+37_81+40del
XM_024449872.1:c.81+37_81+40del	XP_024305640.1:n.81+37_81+40del
NM_000137.4:c.81+37_81+40del MANE Select	NP_000128.1:n.81+37_81+40del
NM_001374377.1:c.81+37_81+40del	NP_001361306.1:n.81+37_81+40del
NM_001374380.1:c.81+37_81+40del	NP_001361309.1:n.81+37_81+40del