Canonical Allele Identifier: CA10603432

Gene: NFIX

Linked Data

• ClinVar Variation Id: 280440
• ClinVar RCV Id: RCV000353243 ; RCV002280877 ; RCV003417876
• dbSNP Id: rs886041647
• MyVariant Identifiers: chr19:g.13192502dupC (hg19) ; chr19:g.13081688dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13081688dup , CM000681.2:g.13081688dup	GRCh38
NC_000019.9:g.13192502dup , CM000681.1:g.13192502dup	GRCh37
NC_000019.8:g.13053502dup	NCBI36
NG_032925.2:g.90919dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000358552.8:c.961dup	ENSP00000351354.5:p.Arg321ProfsTer?
ENST00000622520.2:c.1075+2953dup	ENSP00000481181.2:n.1075+2953dup
ENST00000693124.1:c.773+6017dup
ENST00000592199.6:c.1087dup MANE Select	ENSP00000467512.1:p.Arg363ProfsTer?
ENST00000676441.1:c.1111dup	ENSP00000502554.1:p.Arg371ProfsTer?
ENST00000358552.7:c.973dup	ENSP00000351354.4:p.Arg325ProfsTer?
ENST00000360105.8:c.973dup	ENSP00000353219.4:p.Arg325ProfsTer?
ENST00000397661.6:c.1087dup	ENSP00000380781.2:p.Arg363ProfsTer?
ENST00000585382.5:c.*456dup	ENSP00000466605.1:n.*456dup
ENST00000585575.5:c.1063dup	ENSP00000468794.1:p.Arg355ProfsTer?
ENST00000586797.5:c.*918dup	ENSP00000467536.1:n.*918dup
ENST00000587260.1:c.1084dup	ENSP00000467785.1:p.Arg362ProfsTer?
ENST00000587760.5:c.1063dup	ENSP00000466389.1:p.Arg355ProfsTer?
ENST00000588228.5:c.946dup	ENSP00000466735.1:p.Arg316ProfsTer?
ENST00000592199.5:c.1087dup	ENSP00000467512.1:p.Arg363ProfsTer?
NM_001271043.2:c.1111dup	NP_001257972.1:p.Arg371ProfsTer?
NM_001271044.2:c.1063dup	NP_001257973.1:p.Arg355ProfsTer?
NM_002501.3:c.1087dup	NP_002492.2:p.Arg363ProfsTer?
XM_005259917.3:c.1141dup	XP_005259974.1:p.Arg381ProfsTer?
XM_005259918.3:c.1087dup	XP_005259975.1:p.Arg363ProfsTer?
XM_005259919.3:c.1264dup	XP_005259976.1:p.Arg422ProfsTer?
XM_005259920.3:c.1063dup	XP_005259977.1:p.Arg355ProfsTer?
XM_005259921.3:c.1255+2953dup	XP_005259978.1:n.1255+2953dup
XM_005259922.3:c.1132+6017dup	XP_005259979.1:n.1132+6017dup
XM_006722760.2:c.1141dup	XP_006722823.1:p.Arg381ProfsTer?
XM_011528040.1:c.1135dup	XP_011526342.1:p.Arg379ProfsTer?
NM_001365902.1:c.1087dup	NP_001352831.1:p.Arg363ProfsTer?
NM_001365982.1:c.964dup	NP_001352911.1:p.Arg322ProfsTer?
NM_001365983.1:c.946dup	NP_001352912.1:p.Arg316ProfsTer?
NM_001365984.1:c.1084dup	NP_001352913.1:p.Arg362ProfsTer?
NM_001365985.1:c.1084dup	NP_001352914.1:p.Arg362ProfsTer?
XM_005259917.4:c.1141dup	XP_005259974.1:p.Arg381ProfsTer?
NM_001271044.3:c.1063dup	NP_001257973.1:p.Arg355ProfsTer?
NM_001365902.2:c.1087dup	NP_001352831.1:p.Arg363ProfsTer?
NM_001365982.2:c.964dup	NP_001352911.1:p.Arg322ProfsTer?
NM_001365983.2:c.946dup	NP_001352912.1:p.Arg316ProfsTer?
NM_001365984.2:c.1084dup	NP_001352913.1:p.Arg362ProfsTer?
NM_001365985.2:c.1084dup	NP_001352914.1:p.Arg362ProfsTer?
NM_002501.4:c.1087dup	NP_002492.2:p.Arg363ProfsTer?
NM_001365902.3:c.1087dup MANE Select	NP_001352831.1:p.Arg363ProfsTer?
NM_001378404.1:c.1063dup	NP_001365333.1:p.Arg355ProfsTer?
NM_001378405.1:c.1135dup	NP_001365334.1:p.Arg379ProfsTer?