Canonical Allele Identifier: CA16043607
Gene: NFIA HGNC NCBI

Linked Data

ClinVar Variation Id: 374230
ClinVar RCV Id: RCV000415057
dbSNP Id: rs1057518992

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.61359233del , CM000663.2:g.61359233del GRCh38
NC_000001.10:g.61824905del , CM000663.1:g.61824905del GRCh37
NC_000001.9:g.61597493del NCBI36
NG_011787.1:g.286960del
NG_011787.2:g.286960del

Transcript Alleles

HGVS Amino-acid change
ENST00000482020.2:c.905del ENSP00000474806.2:p.Gly302GlufsTer22
ENST00000699964.1:c.881del ENSP00000514720.1:p.Gly294GlufsTer22
ENST00000699965.1:c.905del ENSP00000514721.1:p.Gly302GlufsTer22
ENST00000699966.1:c.905del ENSP00000514722.1:p.Gly302GlufsTer22
ENST00000699967.1:c.701-24004del ENSP00000514723.1:n.701-24004del
ENST00000699968.1:c.380del ENSP00000514724.1:p.Gly127GlufsTer22
ENST00000699986.1:c.839del ENSP00000514739.1:p.Gly280GlufsTer22
ENST00000699987.1:c.1028del ENSP00000514740.1:p.Gly343GlufsTer22
ENST00000699993.1:c.905del ENSP00000514743.1:p.Gly302GlufsTer22
ENST00000403491.8:c.905del MANE Select ENSP00000384523.3:p.Gly302GlufsTer22
ENST00000655770.1:c.137del ENSP00000499326.1:p.Gly46GlufsTer22
ENST00000657234.1:c.137del ENSP00000499693.1:p.Gly46GlufsTer22
ENST00000662015.1:c.*475del ENSP00000499312.1:n.*475del
ENST00000663597.1:c.137del ENSP00000499597.1:p.Gly46GlufsTer22
ENST00000664149.1:c.905del ENSP00000499651.1:p.Gly302GlufsTer22
ENST00000664495.1:c.*997del ENSP00000499306.1:n.*997del
ENST00000670151.1:c.905del ENSP00000499729.1:p.Gly302GlufsTer?
ENST00000371184.6:c.560-24004del ENSP00000360226.1:n.560-24004del
ENST00000371185.6:c.839del ENSP00000360227.1:p.Gly280GlufsTer22
ENST00000371187.7:c.905del ENSP00000360229.3:p.Gly302GlufsTer22
ENST00000371189.8:c.1040del ENSP00000360231.3:p.Gly347GlufsTer22
ENST00000371191.5:c.974del ENSP00000360233.1:p.Gly325GlufsTer22
ENST00000403491.7:c.905del ENSP00000384523.3:p.Gly302GlufsTer22
ENST00000407417.7:c.881del ENSP00000384680.2:p.Gly294GlufsTer22
ENST00000479364.1:n.495del
ENST00000482020.1:c.205del
ENST00000485903.6:c.905del ENSP00000419785.2:p.Gly302GlufsTer?
NM_001134673.3:c.905del NP_001128145.1:p.Gly302GlufsTer22
NM_001145511.1:c.881del NP_001138983.1:p.Gly294GlufsTer22
NM_001145512.1:c.1040del NP_001138984.1:p.Gly347GlufsTer22
NM_005595.4:c.905del NP_005586.1:p.Gly302GlufsTer22
XM_011541512.1:c.905del XP_011539814.1:p.Gly302GlufsTer22
XM_011541513.1:c.905del XP_011539815.1:p.Gly302GlufsTer22
XM_011541514.1:c.881del XP_011539816.1:p.Gly294GlufsTer22
XM_011541515.1:c.905del XP_011539817.1:p.Gly302GlufsTer22
XM_011541512.3:c.905del XP_011539814.1:p.Gly302GlufsTer22
XM_011541514.3:c.881del XP_011539816.1:p.Gly294GlufsTer22
XM_011541515.3:c.905del XP_011539817.1:p.Gly302GlufsTer22
XM_017001362.2:c.881del XP_016856851.1:p.Gly294GlufsTer22
XM_017001363.1:c.137del XP_016856852.1:p.Gly46GlufsTer22
NM_001134673.4:c.905del MANE Select NP_001128145.1:p.Gly302GlufsTer22
NM_001145511.2:c.881del NP_001138983.1:p.Gly294GlufsTer22
NM_001145512.2:c.1040del NP_001138984.1:p.Gly347GlufsTer22
NM_005595.5:c.905del NP_005586.1:p.Gly302GlufsTer22