Canonical Allele Identifier: CA2689426775
Community Standard Title: NM_001190737.2(NFIB):c.562+1188_562+1193del
Gene: NFIB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.14305798_14305803del , CM000671.2:g.14305798_14305803del GRCh38
NC_000009.11:g.14305797_14305802del , CM000671.1:g.14305797_14305802del GRCh37
NC_000009.10:g.14295797_14295802del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001190737.2:c.562+1188_562+1193del MANE Select NP_001177666.1:n.562+1188_562+1193del
ENST00000380953.6:c.562+1188_562+1193del MANE Select ENSP00000370340.1:n.562+1188_562+1193del
NM_001190737.1:c.562+1188_562+1193del NP_001177666.1:n.562+1188_562+1193del
NM_001190738.1:c.640+1188_640+1193del NP_001177667.1:n.640+1188_640+1193del
NM_001190738.2:c.640+1188_640+1193del NP_001177667.1:n.640+1188_640+1193del
NM_001369458.1:c.628+1188_628+1193del NP_001356387.1:n.628+1188_628+1193del
NM_001369459.1:c.628+1188_628+1193del NP_001356388.1:n.628+1188_628+1193del
NM_001369460.1:c.550+1188_550+1193del NP_001356389.1:n.550+1188_550+1193del
NM_001369461.1:c.562+1188_562+1193del NP_001356390.1:n.562+1188_562+1193del
NM_001369462.1:c.628+1188_628+1193del NP_001356391.1:n.628+1188_628+1193del
NM_001369463.1:c.550+1188_550+1193del NP_001356392.1:n.550+1188_550+1193del
NM_001369464.1:c.562+1188_562+1193del NP_001356393.1:n.562+1188_562+1193del
NM_001369465.1:c.535+1188_535+1193del NP_001356394.1:n.535+1188_535+1193del
NM_001369466.1:c.550+1188_550+1193del NP_001356395.1:n.550+1188_550+1193del
NM_001369467.1:c.535+1188_535+1193del NP_001356396.1:n.535+1188_535+1193del
NM_001369468.1:c.628+1188_628+1193del NP_001356397.1:n.628+1188_628+1193del
NM_001369469.1:c.418+1188_418+1193del NP_001356398.1:n.418+1188_418+1193del
NM_001369470.1:c.325+1413_325+1418del NP_001356399.1:n.325+1413_325+1418del
NM_001369471.1:c.562+1188_562+1193del NP_001356400.1:n.562+1188_562+1193del
NM_001369472.1:c.550+1188_550+1193del NP_001356401.1:n.550+1188_550+1193del
NM_001369473.1:c.550+1188_550+1193del NP_001356402.1:n.550+1188_550+1193del
NM_001369474.1:c.547+1188_547+1193del NP_001356403.1:n.547+1188_547+1193del
NM_001369475.1:c.337+1413_337+1418del NP_001356404.1:n.337+1413_337+1418del
NM_001369476.1:c.535+1188_535+1193del NP_001356405.1:n.535+1188_535+1193del
NM_001369477.1:c.562+1188_562+1193del NP_001356406.1:n.562+1188_562+1193del
NM_001369478.1:c.325+1413_325+1418del NP_001356407.1:n.325+1413_325+1418del
NM_001369481.1:c.*177_*182del NP_001356410.1:n.*177_*182del
NM_005596.3:c.562+1188_562+1193del NP_005587.2:n.562+1188_562+1193del
NR_161382.1:n.96+9058_96+9063del
NR_161383.1:n.447+16140_447+16145del
NR_161384.1:n.94+951_94+956del
ENST00000380921.3:c.*177_*182del ENSP00000370308.3:n.*177_*182del
ENST00000380934.8:c.640+1188_640+1193del ENSP00000370321.4:n.640+1188_640+1193del
ENST00000380953.5:c.562+1188_562+1193del ENSP00000370340.1:n.562+1188_562+1193del
ENST00000380959.7:c.562+1188_562+1193del ENSP00000370346.3:n.562+1188_562+1193del
ENST00000397575.7:c.562+1188_562+1193del ENSP00000380705.3:n.562+1188_562+1193del
ENST00000397579.6:c.562+1188_562+1193del ENSP00000380709.2:n.562+1188_562+1193del
ENST00000397581.6:c.562+1188_562+1193del ENSP00000380711.2:n.562+1188_562+1193del
ENST00000397581.7:c.562+1188_562+1193del ENSP00000380711.2:n.562+1188_562+1193del
ENST00000606230.2:c.550+1188_550+1193del ENSP00000475813.2:n.550+1188_550+1193del
ENST00000622520.1:c.*214_*219del ENSP00000481181.1:n.*214_*219del
ENST00000635877.1:c.540+1188_540+1193del
ENST00000636057.1:c.535+1188_535+1193del ENSP00000490762.1:n.535+1188_535+1193del
ENST00000636063.1:c.337+1413_337+1418del ENSP00000489634.1:n.337+1413_337+1418del
ENST00000636432.1:c.325+1413_325+1418del ENSP00000490588.1:n.325+1413_325+1418del
ENST00000637640.1:c.535+1188_535+1193del ENSP00000490020.1:n.535+1188_535+1193del
ENST00000637742.1:c.562+1188_562+1193del ENSP00000490950.1:n.562+1188_562+1193del
ENST00000646622.1:c.550+1188_550+1193del ENSP00000496424.1:n.550+1188_550+1193del
XM_005251467.1:c.562+1188_562+1193del XP_005251524.1:n.562+1188_562+1193del
XM_005251467.3:c.562+1188_562+1193del XP_005251524.1:n.562+1188_562+1193del
XM_005251468.3:c.550+1188_550+1193del XP_005251525.1:n.550+1188_550+1193del
XM_005251468.5:c.550+1188_550+1193del XP_005251525.1:n.550+1188_550+1193del
XM_005251469.1:c.562+1188_562+1193del XP_005251526.1:n.562+1188_562+1193del
XM_005251469.3:c.562+1188_562+1193del XP_005251526.1:n.562+1188_562+1193del
XM_005251470.1:c.562+1188_562+1193del XP_005251527.1:n.562+1188_562+1193del
XM_005251470.3:c.562+1188_562+1193del XP_005251527.1:n.562+1188_562+1193del
XM_006716773.1:c.562+1188_562+1193del XP_006716836.1:n.562+1188_562+1193del
XM_006716773.3:c.562+1188_562+1193del XP_006716836.1:n.562+1188_562+1193del
XM_006716774.1:c.562+1188_562+1193del XP_006716837.1:n.562+1188_562+1193del
XM_006716774.3:c.562+1188_562+1193del XP_006716837.1:n.562+1188_562+1193del
XM_006716775.1:c.562+1188_562+1193del XP_006716838.1:n.562+1188_562+1193del
XM_006716775.3:c.562+1188_562+1193del XP_006716838.1:n.562+1188_562+1193del
XM_011517886.1:c.562+1188_562+1193del XP_011516188.1:n.562+1188_562+1193del
XM_011517887.1:c.562+1188_562+1193del XP_011516189.1:n.562+1188_562+1193del
XM_017014739.2:c.562+1188_562+1193del XP_016870228.1:n.562+1188_562+1193del
XM_017014740.1:c.550+1188_550+1193del XP_016870229.1:n.550+1188_550+1193del
XM_017014741.1:c.550+1188_550+1193del XP_016870230.1:n.550+1188_550+1193del
XM_024447555.1:c.550+1188_550+1193del XP_024303323.1:n.550+1188_550+1193del
XR_001746308.2:n.985+1188_985+1193del
XR_001746309.2:n.985+1188_985+1193del
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