Canonical Allele Identifier: CA2672009318

Gene: FAT4

Linked Data

• gnomAD v4: 4-125318668-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125318669_125318671del , CM000666.2:g.125318669_125318671del	GRCh38
NC_000004.11:g.126239824_126239826del , CM000666.1:g.126239824_126239826del	GRCh37
NC_000004.10:g.126459274_126459276del	NCBI36
NG_033865.1:g.7258_7260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.2258_2260del MANE Select	ENSP00000377862.4:p.Arg753_Glu754delinsLys
ENST00000674496.2:c.-55+2692_-55+2694del	ENSP00000501473.2:n.-55+2692_-55+2694del
ENST00000394329.7:c.2258_2260del	ENSP00000377862.3:p.Arg753_Glu754delinsLys
NM_001291285.1:c.2258_2260del	NP_001278214.1:p.Arg753_Glu754delinsLys
NM_001291303.1:c.2258_2260del	NP_001278232.1:p.Arg753_Glu754delinsLys
NM_024582.4:c.2258_2260del	NP_078858.4:p.Arg753_Glu754delinsLys
XM_011532236.1:c.2258_2260del	XP_011530538.1:p.Arg753_Glu754delinsLys
XM_011532237.1:c.-55+2692_-55+2694del	XP_011530539.1:n.-55+2692_-55+2694del
XM_011532236.2:c.2258_2260del	XP_011530538.1:p.Arg753_Glu754delinsLys
XM_011532237.2:c.-55+2692_-55+2694del	XP_011530539.1:n.-55+2692_-55+2694del
NM_001291285.2:c.2258_2260del	NP_001278214.1:p.Arg753_Glu754delinsLys
NM_001291303.3:c.2258_2260del MANE Select	NP_001278232.1:p.Arg753_Glu754delinsLys
NM_024582.5:c.2258_2260del	NP_078858.4:p.Arg753_Glu754delinsLys
NM_001291285.3:c.2258_2260del	NP_001278214.1:p.Arg753_Glu754delinsLys
NM_024582.6:c.2258_2260del	NP_078858.4:p.Arg753_Glu754delinsLys