Canonical Allele Identifier: CA1139666303
Gene: NFIX HGNC NCBI

Linked Data

ClinVar Variation Id: 978844
ClinVar RCV Id: RCV001257606
dbSNP Id: rs2013265950

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13025470dup , CM000681.2:g.13025470dup GRCh38
NC_000019.9:g.13136284dup , CM000681.1:g.13136284dup GRCh37
NC_000019.8:g.12997284dup NCBI36
NG_032925.2:g.34701dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000358552.8:c.474dup ENSP00000351354.5:p.Gly159ArgfsTer?
ENST00000622520.2:c.474dup ENSP00000481181.2:p.Gly159ArgfsTer?
ENST00000693124.1:c.295dup
ENST00000592199.6:c.477dup MANE Select ENSP00000467512.1:p.Gly160ArgfsTer?
ENST00000676441.1:c.501dup ENSP00000502554.1:p.Gly168ArgfsTer?
ENST00000358552.7:c.486dup ENSP00000351354.4:p.Gly163ArgfsTer?
ENST00000360105.8:c.486dup ENSP00000353219.4:p.Gly163ArgfsTer?
ENST00000397661.6:c.477dup ENSP00000380781.2:p.Gly160ArgfsTer?
ENST00000585382.5:c.234+102dup ENSP00000466605.1:n.234+102dup
ENST00000585575.5:c.453dup ENSP00000468794.1:p.Gly152ArgfsTer?
ENST00000586797.5:c.*308dup ENSP00000467536.1:n.*308dup
ENST00000586873.1:c.336dup ENSP00000468707.1:p.Gly113ArgfsTer?
ENST00000587260.1:c.474dup ENSP00000467785.1:p.Gly159ArgfsTer?
ENST00000587760.5:c.453dup ENSP00000466389.1:p.Gly152ArgfsTer?
ENST00000588228.5:c.336dup ENSP00000466735.1:p.Gly113ArgfsTer?
ENST00000590027.1:c.336dup ENSP00000465616.1:p.Gly113ArgfsTer?
ENST00000591028.1:c.525dup ENSP00000465094.1:p.Gly176ArgfsTer?
ENST00000592199.5:c.477dup ENSP00000467512.1:p.Gly160ArgfsTer?
NM_001271043.2:c.501dup NP_001257972.1:p.Gly168ArgfsTer?
NM_001271044.2:c.453dup NP_001257973.1:p.Gly152ArgfsTer?
NM_002501.3:c.477dup NP_002492.2:p.Gly160ArgfsTer?
XM_005259917.3:c.654dup XP_005259974.1:p.Gly219ArgfsTer?
XM_005259918.3:c.477dup XP_005259975.1:p.Gly160ArgfsTer?
XM_005259919.3:c.654dup XP_005259976.1:p.Gly219ArgfsTer?
XM_005259920.3:c.453dup XP_005259977.1:p.Gly152ArgfsTer?
XM_005259921.3:c.654dup XP_005259978.1:p.Gly219ArgfsTer?
XM_005259922.3:c.654dup XP_005259979.1:p.Gly219ArgfsTer?
XM_006722760.2:c.654dup XP_006722823.1:p.Gly219ArgfsTer?
XM_011528040.1:c.525dup XP_011526342.1:p.Gly176ArgfsTer?
NM_001365902.1:c.477dup NP_001352831.1:p.Gly160ArgfsTer?
NM_001365982.1:c.477dup NP_001352911.1:p.Gly160ArgfsTer?
NM_001365983.1:c.336dup NP_001352912.1:p.Gly113ArgfsTer?
NM_001365984.1:c.474dup NP_001352913.1:p.Gly159ArgfsTer?
NM_001365985.1:c.474dup NP_001352914.1:p.Gly159ArgfsTer?
XM_005259917.4:c.654dup XP_005259974.1:p.Gly219ArgfsTer?
NM_001271044.3:c.453dup NP_001257973.1:p.Gly152ArgfsTer?
NM_001365902.2:c.477dup NP_001352831.1:p.Gly160ArgfsTer?
NM_001365982.2:c.477dup NP_001352911.1:p.Gly160ArgfsTer?
NM_001365983.2:c.336dup NP_001352912.1:p.Gly113ArgfsTer?
NM_001365984.2:c.474dup NP_001352913.1:p.Gly159ArgfsTer?
NM_001365985.2:c.474dup NP_001352914.1:p.Gly159ArgfsTer?
NM_002501.4:c.477dup NP_002492.2:p.Gly160ArgfsTer?
NM_001365902.3:c.477dup MANE Select NP_001352831.1:p.Gly160ArgfsTer?
NM_001378404.1:c.453dup NP_001365333.1:p.Gly152ArgfsTer?
NM_001378405.1:c.525dup NP_001365334.1:p.Gly176ArgfsTer?