Canonical Allele Identifier: CA2708539477
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs2149721185

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37038474_37038475insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG , CM000667.2:g.37038474_37038475insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG GRCh38
NC_000005.9:g.37038576_37038577insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG , CM000667.1:g.37038576_37038577insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG GRCh37
NC_000005.8:g.37074333_37074334insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG NCBI36
NG_006987.1:g.166592_166593insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
NG_006987.2:g.166592_166593insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG MANE Select ENSP00000282516.8:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGC...
ENST00000652901.1:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG ENSP00000499536.1:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGC...
ENST00000282516.12:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG ENSP00000282516.8:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGC...
ENST00000448238.2:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG ENSP00000406266.2:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGC...
ENST00000621733.1:c.1-26104_1-26103insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG ENSP00000480694.1:n.1-26104_1-26103insGCCGGGCGCGGTGGCTCACGCCT...
NM_015384.4:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG NP_056199.2:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAA...
NM_133433.3:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG NP_597677.2:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAA...
XM_005248280.2:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_005248337.1:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_005248282.3:c.5228-128_5228-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_005248339.2:n.5228-128_5228-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_006714467.2:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_006714530.1:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_006714468.1:c.5774-128_5774-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_006714531.1:n.5774-128_5774-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_011514014.1:c.5591-128_5591-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_011512316.1:n.5591-128_5591-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_011514015.1:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_011512317.1:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_005248280.3:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_005248337.1:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_005248282.5:c.5312-128_5312-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_005248339.3:n.5312-128_5312-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_006714468.2:c.5774-128_5774-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_006714531.1:n.5774-128_5774-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_017009329.1:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_016864818.1:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_017009330.2:c.4355-128_4355-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_016864819.1:n.4355-128_4355-127insGCCGGGCGCGGTGGCTCACGCCTG...
XM_017009331.1:c.4346-128_4346-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG XP_016864820.1:n.4346-128_4346-127insGCCGGGCGCGGTGGCTCACGCCTG...
NM_133433.4:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG MANE Select NP_597677.2:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAA...
NM_015384.5:c.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG NP_056199.2:n.5972-128_5972-127insGCCGGGCGCGGTGGCTCACGCCTGTAA...