Canonical Allele Identifier: CA912992775

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80452201_80452204del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159859_80159862del , CM000677.2:g.80159859_80159862del	GRCh38
NC_000015.9:g.80452201_80452204del , CM000677.1:g.80452201_80452204del	GRCh37
NC_000015.8:g.78239256_78239259del	NCBI36
NG_012833.1:g.11861_11864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.296_299del	ENSP00000507680.1:p.Asp99AlafsTer22
ENST00000682012.1:n.371_374del
ENST00000683593.1:n.173_176del
ENST00000684363.1:c.296_299del	ENSP00000507314.1:p.Asp99AlafsTer22
ENST00000684569.1:n.341_344del
ENST00000561421.6:c.296_299del MANE Select	ENSP00000453347.2:p.Asp99AlafsTer22
ENST00000646551.1:n.1783_1786del
ENST00000261755.9:c.296_299del	ENSP00000261755.5:p.Asp99AlafsTer22
ENST00000407106.5:c.296_299del	ENSP00000385080.1:p.Asp99AlafsTer22
ENST00000537726.5:n.378_381del
ENST00000539156.5:c.86_89del	ENSP00000454271.1:p.Asp29AlafsTer22
ENST00000558022.5:c.296_299del	ENSP00000453152.1:p.Asp99AlafsTer22
ENST00000558767.5:n.557_560del
ENST00000561369.1:n.376_379del
ENST00000561421.5:c.296_299del	ENSP00000453347.1:p.Asp99AlafsTer22
NM_000137.2:c.296_299del	NP_000128.1:p.Asp99AlafsTer22
XM_024449872.1:c.296_299del	XP_024305640.1:p.Asp99AlafsTer22
NM_000137.4:c.296_299del MANE Select	NP_000128.1:p.Asp99AlafsTer22
NM_001374377.1:c.296_299del	NP_001361306.1:p.Asp99AlafsTer22
NM_001374380.1:c.296_299del	NP_001361309.1:p.Asp99AlafsTer22