Canonical Allele Identifier: CA1539611370

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038454_37038458delinsCTAGT , CM000667.2:g.37038454_37038458delinsCTAGT	GRCh38
NC_000005.9:g.37038556_37038560delinsCTAGT , CM000667.1:g.37038556_37038560delinsCTAGT	GRCh37
NC_000005.8:g.37074313_37074317delinsCTAGT	NCBI36
NG_006987.1:g.166572_166576delinsCTAGT
NG_006987.2:g.166572_166576delinsCTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-148_5972-144delinsCTAGT MANE Select	ENSP00000282516.8:n.5972-148_5972-144delinsCTAGT
ENST00000652901.1:c.5972-148_5972-144delinsCTAGT	ENSP00000499536.1:n.5972-148_5972-144delinsCTAGT
ENST00000282516.12:c.5972-148_5972-144delinsCTAGT	ENSP00000282516.8:n.5972-148_5972-144delinsCTAGT
ENST00000448238.2:c.5972-148_5972-144delinsCTAGT	ENSP00000406266.2:n.5972-148_5972-144delinsCTAGT
ENST00000621733.1:c.1-26124_1-26120delinsCTAGT	ENSP00000480694.1:n.1-26124_1-26120delinsCTAGT
NM_015384.4:c.5972-148_5972-144delinsCTAGT	NP_056199.2:n.5972-148_5972-144delinsCTAGT
NM_133433.3:c.5972-148_5972-144delinsCTAGT	NP_597677.2:n.5972-148_5972-144delinsCTAGT
XM_005248280.2:c.5972-148_5972-144delinsCTAGT	XP_005248337.1:n.5972-148_5972-144delinsCTAGT
XM_005248282.3:c.5228-148_5228-144delinsCTAGT	XP_005248339.2:n.5228-148_5228-144delinsCTAGT
XM_006714467.2:c.5972-148_5972-144delinsCTAGT	XP_006714530.1:n.5972-148_5972-144delinsCTAGT
XM_006714468.1:c.5774-148_5774-144delinsCTAGT	XP_006714531.1:n.5774-148_5774-144delinsCTAGT
XM_011514014.1:c.5591-148_5591-144delinsCTAGT	XP_011512316.1:n.5591-148_5591-144delinsCTAGT
XM_011514015.1:c.5972-148_5972-144delinsCTAGT	XP_011512317.1:n.5972-148_5972-144delinsCTAGT
XM_005248280.3:c.5972-148_5972-144delinsCTAGT	XP_005248337.1:n.5972-148_5972-144delinsCTAGT
XM_005248282.5:c.5312-148_5312-144delinsCTAGT	XP_005248339.3:n.5312-148_5312-144delinsCTAGT
XM_006714468.2:c.5774-148_5774-144delinsCTAGT	XP_006714531.1:n.5774-148_5774-144delinsCTAGT
XM_017009329.1:c.5972-148_5972-144delinsCTAGT	XP_016864818.1:n.5972-148_5972-144delinsCTAGT
XM_017009330.2:c.4355-148_4355-144delinsCTAGT	XP_016864819.1:n.4355-148_4355-144delinsCTAGT
XM_017009331.1:c.4346-148_4346-144delinsCTAGT	XP_016864820.1:n.4346-148_4346-144delinsCTAGT
NM_133433.4:c.5972-148_5972-144delinsCTAGT MANE Select	NP_597677.2:n.5972-148_5972-144delinsCTAGT
NM_015384.5:c.5972-148_5972-144delinsCTAGT	NP_056199.2:n.5972-148_5972-144delinsCTAGT