Canonical Allele Identifier: CA971894653

Gene: FAH

Linked Data

• dbSNP Id: rs2041065507
• gnomAD v3: 15-80153088-TTCCCCA-T
• gnomAD v4: 15-80153088-TTCCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153092_80153097del , CM000677.2:g.80153092_80153097del	GRCh38
NC_000015.9:g.80445434_80445439del , CM000677.1:g.80445434_80445439del	GRCh37
NC_000015.8:g.78232489_78232494del	NCBI36
NG_012833.1:g.5094_5099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.38_43del	ENSP00000507680.1:p.Pro13_Ile14del
ENST00000682012.1:n.113_118del
ENST00000684363.1:c.38_43del	ENSP00000507314.1:p.Pro13_Ile14del
ENST00000684569.1:n.83_88del
ENST00000561421.6:c.38_43del MANE Select	ENSP00000453347.2:p.Pro13_Ile14del
ENST00000261755.9:c.38_43del	ENSP00000261755.5:p.Pro13_Ile14del
ENST00000407106.5:c.38_43del	ENSP00000385080.1:p.Pro13_Ile14del
ENST00000537726.5:n.120_125del
ENST00000558022.5:c.38_43del	ENSP00000453152.1:p.Pro13_Ile14del
ENST00000558767.5:n.299_304del
ENST00000561369.1:n.118_123del
ENST00000561421.5:c.38_43del	ENSP00000453347.1:p.Pro13_Ile14del
NM_000137.2:c.38_43del	NP_000128.1:p.Pro13_Ile14del
XM_024449872.1:c.38_43del	XP_024305640.1:p.Pro13_Ile14del
NM_000137.4:c.38_43del MANE Select	NP_000128.1:p.Pro13_Ile14del
NM_001374377.1:c.38_43del	NP_001361306.1:p.Pro13_Ile14del
NM_001374380.1:c.38_43del	NP_001361309.1:p.Pro13_Ile14del