Canonical Allele Identifier: CA2517501271

Gene: FAT4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317569_125317570del , CM000666.2:g.125317569_125317570del	GRCh38
NC_000004.11:g.126238724_126238725del , CM000666.1:g.126238724_126238725del	GRCh37
NC_000004.10:g.126458174_126458175del	NCBI36
NG_033865.1:g.6158_6159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.1158_1159del MANE Select	ENSP00000377862.4:p.Pro388ArgfsTer15
ENST00000674496.2:c.-55+1592_-55+1593del	ENSP00000501473.2:n.-55+1592_-55+1593del
ENST00000394329.7:c.1158_1159del	ENSP00000377862.3:p.Pro388ArgfsTer15
NM_001291285.1:c.1158_1159del	NP_001278214.1:p.Pro388ArgfsTer15
NM_001291303.1:c.1158_1159del	NP_001278232.1:p.Pro388ArgfsTer15
NM_024582.4:c.1158_1159del	NP_078858.4:p.Pro388ArgfsTer15
XM_011532236.1:c.1158_1159del	XP_011530538.1:p.Pro388ArgfsTer15
XM_011532237.1:c.-55+1592_-55+1593del	XP_011530539.1:n.-55+1592_-55+1593del
XM_011532236.2:c.1158_1159del	XP_011530538.1:p.Pro388ArgfsTer15
XM_011532237.2:c.-55+1592_-55+1593del	XP_011530539.1:n.-55+1592_-55+1593del
NM_001291285.2:c.1158_1159del	NP_001278214.1:p.Pro388ArgfsTer15
NM_001291303.3:c.1158_1159del MANE Select	NP_001278232.1:p.Pro388ArgfsTer15
NM_024582.5:c.1158_1159del	NP_078858.4:p.Pro388ArgfsTer15
NM_001291285.3:c.1158_1159del	NP_001278214.1:p.Pro388ArgfsTer15
NM_024582.6:c.1158_1159del	NP_078858.4:p.Pro388ArgfsTer15