Canonical Allele Identifier: CA2572999716

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038371_37038372insCAAGATAAAGAACAAGAGGCCA , CM000667.2:g.37038371_37038372insCAAGATAAAGAACAAGAGGCCA	GRCh38
NC_000005.9:g.37038473_37038474insCAAGATAAAGAACAAGAGGCCA , CM000667.1:g.37038473_37038474insCAAGATAAAGAACAAGAGGCCA	GRCh37
NC_000005.8:g.37074230_37074231insCAAGATAAAGAACAAGAGGCCA	NCBI36
NG_006987.1:g.166489_166490insCAAGATAAAGAACAAGAGGCCA
NG_006987.2:g.166489_166490insCAAGATAAAGAACAAGAGGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA MANE Select	ENSP00000282516.8:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCC...
ENST00000652901.1:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	ENSP00000499536.1:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCC...
ENST00000282516.12:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	ENSP00000282516.8:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCC...
ENST00000448238.2:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	ENSP00000406266.2:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCC...
ENST00000621733.1:c.1-26207_1-26206insCAAGATAAAGAACAAGAGGCCA	ENSP00000480694.1:n.1-26207_1-26206insCAAGATAAAGAACAAGAGGCCA
NM_015384.4:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	NP_056199.2:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
NM_133433.3:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	NP_597677.2:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
XM_005248280.2:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	XP_005248337.1:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
XM_005248282.3:c.5228-231_5228-230insCAAGATAAAGAACAAGAGGCCA	XP_005248339.2:n.5228-231_5228-230insCAAGATAAAGAACAAGAGGCCA
XM_006714467.2:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	XP_006714530.1:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
XM_006714468.1:c.5774-231_5774-230insCAAGATAAAGAACAAGAGGCCA	XP_006714531.1:n.5774-231_5774-230insCAAGATAAAGAACAAGAGGCCA
XM_011514014.1:c.5591-231_5591-230insCAAGATAAAGAACAAGAGGCCA	XP_011512316.1:n.5591-231_5591-230insCAAGATAAAGAACAAGAGGCCA
XM_011514015.1:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	XP_011512317.1:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
XM_005248280.3:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	XP_005248337.1:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
XM_005248282.5:c.5312-231_5312-230insCAAGATAAAGAACAAGAGGCCA	XP_005248339.3:n.5312-231_5312-230insCAAGATAAAGAACAAGAGGCCA
XM_006714468.2:c.5774-231_5774-230insCAAGATAAAGAACAAGAGGCCA	XP_006714531.1:n.5774-231_5774-230insCAAGATAAAGAACAAGAGGCCA
XM_017009329.1:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	XP_016864818.1:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
XM_017009330.2:c.4355-231_4355-230insCAAGATAAAGAACAAGAGGCCA	XP_016864819.1:n.4355-231_4355-230insCAAGATAAAGAACAAGAGGCCA
XM_017009331.1:c.4346-231_4346-230insCAAGATAAAGAACAAGAGGCCA	XP_016864820.1:n.4346-231_4346-230insCAAGATAAAGAACAAGAGGCCA
NM_133433.4:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA MANE Select	NP_597677.2:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA
NM_015384.5:c.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA	NP_056199.2:n.5972-231_5972-230insCAAGATAAAGAACAAGAGGCCA