Canonical Allele Identifier: CA205694
Gene: NFIX HGNC NCBI

Linked Data

ClinVar Variation Id: 211591
ClinVar RCV Id: RCV000192696
dbSNP Id: rs797045737

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13081681_13081697del , CM000681.2:g.13081681_13081697del GRCh38
NC_000019.9:g.13192495_13192511del , CM000681.1:g.13192495_13192511del GRCh37
NC_000019.8:g.13053495_13053511del NCBI36
NG_032925.2:g.90912_90928del

Transcript Alleles

HGVS Amino-acid change
ENST00000358552.8:c.954_970del ENSP00000351354.5:p.Ser319IlefsTer?
ENST00000622520.2:c.1075+2946_1075+2962del ENSP00000481181.2:n.1075+2946_1075+2962de...
ENST00000693124.1:c.773+6010_773+6026del
ENST00000592199.6:c.1080_1096del MANE Select ENSP00000467512.1:p.Ser361IlefsTer?
ENST00000676441.1:c.1104_1120del ENSP00000502554.1:p.Ser369IlefsTer?
ENST00000358552.7:c.966_982del ENSP00000351354.4:p.Ser323IlefsTer?
ENST00000360105.8:c.966_982del ENSP00000353219.4:p.Ser323IlefsTer?
ENST00000397661.6:c.1080_1096del ENSP00000380781.2:p.Ser361IlefsTer?
ENST00000585382.5:c.*449_*465del ENSP00000466605.1:n.*449_*465del
ENST00000585575.5:c.1056_1072del ENSP00000468794.1:p.Ser353IlefsTer?
ENST00000586797.5:c.*911_*927del ENSP00000467536.1:n.*911_*927del
ENST00000587260.1:c.1077_1093del ENSP00000467785.1:p.Ser360IlefsTer?
ENST00000587760.5:c.1056_1072del ENSP00000466389.1:p.Ser353IlefsTer?
ENST00000588228.5:c.939_955del ENSP00000466735.1:p.Ser314IlefsTer?
ENST00000592199.5:c.1080_1096del ENSP00000467512.1:p.Ser361IlefsTer?
NM_001271043.2:c.1104_1120del NP_001257972.1:p.Ser369IlefsTer?
NM_001271044.2:c.1056_1072del NP_001257973.1:p.Ser353IlefsTer?
NM_002501.3:c.1080_1096del NP_002492.2:p.Ser361IlefsTer?
XM_005259917.3:c.1134_1150del XP_005259974.1:p.Ser379IlefsTer?
XM_005259918.3:c.1080_1096del XP_005259975.1:p.Ser361IlefsTer?
XM_005259919.3:c.1257_1273del XP_005259976.1:p.Ser420IlefsTer?
XM_005259920.3:c.1056_1072del XP_005259977.1:p.Ser353IlefsTer?
XM_005259921.3:c.1255+2946_1255+2962del XP_005259978.1:n.1255+2946_1255+2962del
XM_005259922.3:c.1132+6010_1132+6026del XP_005259979.1:n.1132+6010_1132+6026del
XM_006722760.2:c.1134_1150del XP_006722823.1:p.Ser379IlefsTer?
XM_011528040.1:c.1128_1144del XP_011526342.1:p.Ser377IlefsTer?
NM_001365902.1:c.1080_1096del NP_001352831.1:p.Ser361IlefsTer?
NM_001365982.1:c.957_973del NP_001352911.1:p.Ser320IlefsTer?
NM_001365983.1:c.939_955del NP_001352912.1:p.Ser314IlefsTer?
NM_001365984.1:c.1077_1093del NP_001352913.1:p.Ser360IlefsTer?
NM_001365985.1:c.1077_1093del NP_001352914.1:p.Ser360IlefsTer?
XM_005259917.4:c.1134_1150del XP_005259974.1:p.Ser379IlefsTer?
NM_001271044.3:c.1056_1072del NP_001257973.1:p.Ser353IlefsTer?
NM_001365902.2:c.1080_1096del NP_001352831.1:p.Ser361IlefsTer?
NM_001365982.2:c.957_973del NP_001352911.1:p.Ser320IlefsTer?
NM_001365983.2:c.939_955del NP_001352912.1:p.Ser314IlefsTer?
NM_001365984.2:c.1077_1093del NP_001352913.1:p.Ser360IlefsTer?
NM_001365985.2:c.1077_1093del NP_001352914.1:p.Ser360IlefsTer?
NM_002501.4:c.1080_1096del NP_002492.2:p.Ser361IlefsTer?
NM_001365902.3:c.1080_1096del MANE Select NP_001352831.1:p.Ser361IlefsTer?
NM_001378404.1:c.1056_1072del NP_001365333.1:p.Ser353IlefsTer?
NM_001378405.1:c.1128_1144del NP_001365334.1:p.Ser377IlefsTer?