Canonical Allele Identifier: CA7691002

Gene: FAH

Linked Data

• ClinVar Variation Id: 1262029
• ClinVar RCV Id: RCV001667148
• dbSNP Id: rs554422109
• ExAC: 15:80445514 GGAGTGGAGTGGAGTGGAGT / G
• gnomAD v2: 15-80445514-GGAGTGGAGTGGAGTGGAGT-G
• gnomAD v3: 15-80153172-GGAGTGGAGTGGAGTGGAGT-G
• gnomAD v4: 15-80153172-GGAGTGGAGTGGAGTGGAGT-G
• MyVariant Identifiers: chr15:g.80445515_80445533del (hg19) ; chr15:g.80445516_80445543delinsGAGTGGAGT (hg19) ; chr15:g.80153173_80153191del (hg38) ; chr15:g.80153174_80153201delinsGAGTGGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153174_80153192del , CM000677.2:g.80153174_80153192del	GRCh38
NC_000015.9:g.80445516_80445534del , CM000677.1:g.80445516_80445534del	GRCh37
NC_000015.8:g.78232571_78232589del	NCBI36
NG_012833.1:g.5176_5194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+39_81+57del	ENSP00000507680.1:n.81+39_81+57del
ENST00000682012.1:n.156+39_156+57del
ENST00000684363.1:c.81+39_81+57del	ENSP00000507314.1:n.81+39_81+57del
ENST00000684569.1:n.126+39_126+57del
ENST00000561421.6:c.81+39_81+57del MANE Select	ENSP00000453347.2:n.81+39_81+57del
ENST00000261755.9:c.81+39_81+57del	ENSP00000261755.5:n.81+39_81+57del
ENST00000407106.5:c.81+39_81+57del	ENSP00000385080.1:n.81+39_81+57del
ENST00000537726.5:n.163+39_163+57del
ENST00000558022.5:c.81+39_81+57del	ENSP00000453152.1:n.81+39_81+57del
ENST00000558767.5:n.342+39_342+57del
ENST00000561369.1:n.161+39_161+57del
ENST00000561421.5:c.81+39_81+57del	ENSP00000453347.1:n.81+39_81+57del
NM_000137.2:c.81+39_81+57del	NP_000128.1:n.81+39_81+57del
XM_024449872.1:c.81+39_81+57del	XP_024305640.1:n.81+39_81+57del
NM_000137.4:c.81+39_81+57del MANE Select	NP_000128.1:n.81+39_81+57del
NM_001374377.1:c.81+39_81+57del	NP_001361306.1:n.81+39_81+57del
NM_001374380.1:c.81+39_81+57del	NP_001361309.1:n.81+39_81+57del