Canonical Allele Identifier: CA2580652597

Gene: FAT4

Linked Data

• gnomAD v4: 4-125317754-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317755del , CM000666.2:g.125317755del	GRCh38
NC_000004.11:g.126238910del , CM000666.1:g.126238910del	GRCh37
NC_000004.10:g.126458360del	NCBI36
NG_033865.1:g.6344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.1344del MANE Select	ENSP00000377862.4:p.Gly449AlafsTer14
ENST00000674496.2:c.-55+1778del	ENSP00000501473.2:n.-55+1778del
ENST00000394329.7:c.1344del	ENSP00000377862.3:p.Gly449AlafsTer14
NM_001291285.1:c.1344del	NP_001278214.1:p.Gly449AlafsTer14
NM_001291303.1:c.1344del	NP_001278232.1:p.Gly449AlafsTer14
NM_024582.4:c.1344del	NP_078858.4:p.Gly449AlafsTer14
XM_011532236.1:c.1344del	XP_011530538.1:p.Gly449AlafsTer14
XM_011532237.1:c.-55+1778del	XP_011530539.1:n.-55+1778del
XM_011532236.2:c.1344del	XP_011530538.1:p.Gly449AlafsTer14
XM_011532237.2:c.-55+1778del	XP_011530539.1:n.-55+1778del
NM_001291285.2:c.1344del	NP_001278214.1:p.Gly449AlafsTer14
NM_001291303.3:c.1344del MANE Select	NP_001278232.1:p.Gly449AlafsTer14
NM_024582.5:c.1344del	NP_078858.4:p.Gly449AlafsTer14
NM_001291285.3:c.1344del	NP_001278214.1:p.Gly449AlafsTer14
NM_024582.6:c.1344del	NP_078858.4:p.Gly449AlafsTer14