Canonical Allele Identifier: CA2580096549
Community Standard Title: NM_001365902.3(NFIX):c.339_340dup (p.Ile114ArgfsTer22)
Gene: NFIX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13025332_13025333dup , CM000681.2:g.13025332_13025333dup GRCh38
NC_000019.9:g.13136146_13136147dup , CM000681.1:g.13136146_13136147dup GRCh37
NC_000019.8:g.12997146_12997147dup NCBI36
NG_032925.2:g.34563_34564dup

Transcript Alleles

HGVS Amino-acid Change
NM_001365902.3:c.339_340dup MANE Select NP_001352831.1:p.Ile114ArgfsTer22
ENST00000592199.6:c.339_340dup MANE Select ENSP00000467512.1:p.Ile114ArgfsTer22
NM_001271043.2:c.363_364dup NP_001257972.1:p.Ile122ArgfsTer22
NM_001271044.2:c.315_316dup NP_001257973.1:p.Ile106ArgfsTer22
NM_001271044.3:c.315_316dup NP_001257973.1:p.Ile106ArgfsTer22
NM_001365902.1:c.339_340dup NP_001352831.1:p.Ile114ArgfsTer22
NM_001365902.2:c.339_340dup NP_001352831.1:p.Ile114ArgfsTer22
NM_001365982.1:c.339_340dup NP_001352911.1:p.Ile114ArgfsTer22
NM_001365982.2:c.339_340dup NP_001352911.1:p.Ile114ArgfsTer22
NM_001365983.1:c.198_199dup NP_001352912.1:p.Ile67ArgfsTer22
NM_001365983.2:c.198_199dup NP_001352912.1:p.Ile67ArgfsTer22
NM_001365984.1:c.336_337dup NP_001352913.1:p.Ile113ArgfsTer22
NM_001365984.2:c.336_337dup NP_001352913.1:p.Ile113ArgfsTer22
NM_001365985.1:c.336_337dup NP_001352914.1:p.Ile113ArgfsTer22
NM_001365985.2:c.336_337dup NP_001352914.1:p.Ile113ArgfsTer22
NM_001378404.1:c.315_316dup NP_001365333.1:p.Ile106ArgfsTer22
NM_001378405.1:c.387_388dup NP_001365334.1:p.Ile130ArgfsTer22
NM_002501.3:c.339_340dup NP_002492.2:p.Ile114ArgfsTer22
NM_002501.4:c.339_340dup NP_002492.2:p.Ile114ArgfsTer22
ENST00000358552.7:c.348_349dup ENSP00000351354.4:p.Ile117ArgfsTer22
ENST00000358552.8:c.336_337dup ENSP00000351354.5:p.Ile113ArgfsTer22
ENST00000360105.8:c.348_349dup ENSP00000353219.4:p.Ile117ArgfsTer22
ENST00000397661.6:c.339_340dup ENSP00000380781.2:p.Ile114ArgfsTer22
ENST00000585382.5:c.198_199dup ENSP00000466605.1:p.Ile67ArgfsTer19
ENST00000585575.5:c.315_316dup ENSP00000468794.1:p.Ile106ArgfsTer22
ENST00000586797.5:c.*170_*171dup ENSP00000467536.1:n.*170_*171dup
ENST00000586873.1:c.198_199dup ENSP00000468707.1:p.Ile67ArgfsTer22
ENST00000587260.1:c.336_337dup ENSP00000467785.1:p.Ile113ArgfsTer22
ENST00000587760.5:c.315_316dup ENSP00000466389.1:p.Ile106ArgfsTer22
ENST00000588228.5:c.198_199dup ENSP00000466735.1:p.Ile67ArgfsTer22
ENST00000590027.1:c.198_199dup ENSP00000465616.1:p.Ile67ArgfsTer22
ENST00000591028.1:c.387_388dup ENSP00000465094.1:p.Ile130ArgfsTer22
ENST00000592199.5:c.339_340dup ENSP00000467512.1:p.Ile114ArgfsTer22
ENST00000622520.2:c.336_337dup ENSP00000481181.2:p.Ile113ArgfsTer22
ENST00000676441.1:c.363_364dup ENSP00000502554.1:p.Ile122ArgfsTer22
ENST00000693124.1:c.157_158dup
XM_005259917.3:c.516_517dup XP_005259974.1:p.Ile173ArgfsTer22
XM_005259917.4:c.516_517dup XP_005259974.1:p.Ile173ArgfsTer22
XM_005259918.3:c.339_340dup XP_005259975.1:p.Ile114ArgfsTer22
XM_005259919.3:c.516_517dup XP_005259976.1:p.Ile173ArgfsTer22
XM_005259920.3:c.315_316dup XP_005259977.1:p.Ile106ArgfsTer22
XM_005259921.3:c.516_517dup XP_005259978.1:p.Ile173ArgfsTer22
XM_005259922.3:c.516_517dup XP_005259979.1:p.Ile173ArgfsTer22
XM_006722760.2:c.516_517dup XP_006722823.1:p.Ile173ArgfsTer22
XM_011528040.1:c.387_388dup XP_011526342.1:p.Ile130ArgfsTer22