Canonical Allele Identifier: CA16620768
Gene: NFIX HGNC NCBI

Linked Data

ClinVar Variation Id: 423194
ClinVar RCV Id: RCV000480113
dbSNP Id: rs1064796288

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13025260_13025261delinsC , CM000681.2:g.13025260_13025261delinsC GRCh38
NC_000019.9:g.13136074_13136075delinsC , CM000681.1:g.13136074_13136075delinsC GRCh37
NC_000019.8:g.12997074_12997075delinsC NCBI36
NG_032925.2:g.34491_34492delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000358552.8:c.264_265delinsC ENSP00000351354.5:p.Glu88AspfsTer5
ENST00000622520.2:c.264_265delinsC ENSP00000481181.2:p.Glu88AspfsTer5
ENST00000693124.1:c.85_86delinsC
ENST00000592199.6:c.267_268delinsC MANE Select ENSP00000467512.1:p.Glu89AspfsTer5
ENST00000676441.1:c.291_292delinsC ENSP00000502554.1:p.Glu97AspfsTer5
ENST00000358552.7:c.276_277delinsC ENSP00000351354.4:p.Glu92AspfsTer5
ENST00000360105.8:c.276_277delinsC ENSP00000353219.4:p.Glu92AspfsTer5
ENST00000397661.6:c.267_268delinsC ENSP00000380781.2:p.Glu89AspfsTer5
ENST00000585382.5:c.126_127delinsC ENSP00000466605.1:p.Glu42AspfsTer5
ENST00000585575.5:c.243_244delinsC ENSP00000468794.1:p.Glu81AspfsTer5
ENST00000586797.5:c.*98_*99delinsC ENSP00000467536.1:n.*98_*99delinsC
ENST00000586873.1:c.126_127delinsC ENSP00000468707.1:p.Glu42AspfsTer5
ENST00000587260.1:c.264_265delinsC ENSP00000467785.1:p.Glu88AspfsTer5
ENST00000587760.5:c.243_244delinsC ENSP00000466389.1:p.Glu81AspfsTer5
ENST00000588228.5:c.126_127delinsC ENSP00000466735.1:p.Glu42AspfsTer5
ENST00000590027.1:c.126_127delinsC ENSP00000465616.1:p.Glu42AspfsTer5
ENST00000591028.1:c.315_316delinsC ENSP00000465094.1:p.Glu105AspfsTer5
ENST00000592199.5:c.267_268delinsC ENSP00000467512.1:p.Glu89AspfsTer5
NM_001271043.2:c.291_292delinsC NP_001257972.1:p.Glu97AspfsTer5
NM_001271044.2:c.243_244delinsC NP_001257973.1:p.Glu81AspfsTer5
NM_002501.3:c.267_268delinsC NP_002492.2:p.Glu89AspfsTer5
XM_005259917.3:c.444_445delinsC XP_005259974.1:p.Glu148AspfsTer5
XM_005259918.3:c.267_268delinsC XP_005259975.1:p.Glu89AspfsTer5
XM_005259919.3:c.444_445delinsC XP_005259976.1:p.Glu148AspfsTer5
XM_005259920.3:c.243_244delinsC XP_005259977.1:p.Glu81AspfsTer5
XM_005259921.3:c.444_445delinsC XP_005259978.1:p.Glu148AspfsTer5
XM_005259922.3:c.444_445delinsC XP_005259979.1:p.Glu148AspfsTer5
XM_006722760.2:c.444_445delinsC XP_006722823.1:p.Glu148AspfsTer5
XM_011528040.1:c.315_316delinsC XP_011526342.1:p.Glu105AspfsTer5
NM_001365902.1:c.267_268delinsC NP_001352831.1:p.Glu89AspfsTer5
NM_001365982.1:c.267_268delinsC NP_001352911.1:p.Glu89AspfsTer5
NM_001365983.1:c.126_127delinsC NP_001352912.1:p.Glu42AspfsTer5
NM_001365984.1:c.264_265delinsC NP_001352913.1:p.Glu88AspfsTer5
NM_001365985.1:c.264_265delinsC NP_001352914.1:p.Glu88AspfsTer5
XM_005259917.4:c.444_445delinsC XP_005259974.1:p.Glu148AspfsTer5
NM_001271044.3:c.243_244delinsC NP_001257973.1:p.Glu81AspfsTer5
NM_001365902.2:c.267_268delinsC NP_001352831.1:p.Glu89AspfsTer5
NM_001365982.2:c.267_268delinsC NP_001352911.1:p.Glu89AspfsTer5
NM_001365983.2:c.126_127delinsC NP_001352912.1:p.Glu42AspfsTer5
NM_001365984.2:c.264_265delinsC NP_001352913.1:p.Glu88AspfsTer5
NM_001365985.2:c.264_265delinsC NP_001352914.1:p.Glu88AspfsTer5
NM_002501.4:c.267_268delinsC NP_002492.2:p.Glu89AspfsTer5
NM_001365902.3:c.267_268delinsC MANE Select NP_001352831.1:p.Glu89AspfsTer5
NM_001378404.1:c.243_244delinsC NP_001365333.1:p.Glu81AspfsTer5
NM_001378405.1:c.315_316delinsC NP_001365334.1:p.Glu105AspfsTer5