Canonical Allele Identifier: CA2672012542

Gene: FAT4

Linked Data

• gnomAD v4: 4-125481540-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125481542dup , CM000666.2:g.125481542dup	GRCh38
NC_000004.11:g.126402697dup , CM000666.1:g.126402697dup	GRCh37
NC_000004.10:g.126622147dup	NCBI36
NG_033865.1:g.170131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12626dup MANE Select	ENSP00000377862.4:p.Leu4209PhefsTer17
ENST00000674496.2:c.7397dup	ENSP00000501473.2:p.Leu2466PhefsTer17
ENST00000335110.5:c.7343dup	ENSP00000335169.5:p.Leu2448PhefsTer17
ENST00000394329.7:c.12620dup	ENSP00000377862.3:p.Leu4207PhefsTer17
NM_001291285.1:c.12626dup	NP_001278214.1:p.Leu4209PhefsTer17
NM_001291303.1:c.12626dup	NP_001278232.1:p.Leu4209PhefsTer17
NM_024582.4:c.12620dup	NP_078858.4:p.Leu4207PhefsTer17
XM_011532236.1:c.12626dup	XP_011530538.1:p.Leu4209PhefsTer17
XM_011532237.1:c.7397dup	XP_011530539.1:p.Leu2466PhefsTer17
XM_011532236.2:c.12626dup	XP_011530538.1:p.Leu4209PhefsTer17
XM_011532237.2:c.7397dup	XP_011530539.1:p.Leu2466PhefsTer17
NM_001291285.2:c.12626dup	NP_001278214.1:p.Leu4209PhefsTer17
NM_001291303.3:c.12626dup MANE Select	NP_001278232.1:p.Leu4209PhefsTer17
NM_024582.5:c.12620dup	NP_078858.4:p.Leu4207PhefsTer17
NM_001291285.3:c.12626dup	NP_001278214.1:p.Leu4209PhefsTer17
NM_024582.6:c.12620dup	NP_078858.4:p.Leu4207PhefsTer17