Canonical Allele Identifier: CA716105798

Gene: FAH

Linked Data

• dbSNP Id: rs1325508078
• gnomAD v4: 15-80162357-C-CATG
• MyVariant Identifiers: chr15:g.80454699_80454700insATG (hg19) ; chr15:g.80162357_80162358insATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162357_80162358insATG , CM000677.2:g.80162357_80162358insATG	GRCh38
NC_000015.9:g.80454699_80454700insATG , CM000677.1:g.80454699_80454700insATG	GRCh37
NC_000015.8:g.78241754_78241755insATG	NCBI36
NG_012833.1:g.14359_14360insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.476_477insATG	ENSP00000507680.1:p.Ser159_Ala160insCys
ENST00000682012.1:n.530+21_530+22insATG
ENST00000683593.1:n.2139_2140insATG
ENST00000684363.1:c.365-35_365-34insATG	ENSP00000507314.1:n.365-35_365-34insATG
ENST00000684569.1:n.500+21_500+22insATG
ENST00000561421.6:c.455+21_455+22insATG MANE Select	ENSP00000453347.2:n.455+21_455+22insATG
ENST00000646551.1:n.1942+21_1942+22insATG
ENST00000261755.9:c.455+21_455+22insATG	ENSP00000261755.5:n.455+21_455+22insATG
ENST00000407106.5:c.455+21_455+22insATG	ENSP00000385080.1:n.455+21_455+22insATG
ENST00000537726.5:n.622_623insATG
ENST00000539156.5:c.245+21_245+22insATG	ENSP00000454271.1:n.245+21_245+22insATG
ENST00000558022.5:c.455+21_455+22insATG	ENSP00000453152.1:n.455+21_455+22insATG
ENST00000558627.1:n.383+21_383+22insATG
ENST00000558767.5:n.737_738insATG
ENST00000561369.1:n.620_621insATG
ENST00000561421.5:c.455+21_455+22insATG	ENSP00000453347.1:n.455+21_455+22insATG
NM_000137.2:c.455+21_455+22insATG	NP_000128.1:n.455+21_455+22insATG
XM_024449872.1:c.455+21_455+22insATG	XP_024305640.1:n.455+21_455+22insATG
NM_000137.4:c.455+21_455+22insATG MANE Select	NP_000128.1:n.455+21_455+22insATG
NM_001374377.1:c.455+21_455+22insATG	NP_001361306.1:n.455+21_455+22insATG
NM_001374380.1:c.455+21_455+22insATG	NP_001361309.1:n.455+21_455+22insATG