Canonical Allele Identifier: CA1539611459

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038582_37038584delinsTTC , CM000667.2:g.37038582_37038584delinsTTC	GRCh38
NC_000005.9:g.37038684_37038686delinsTTC , CM000667.1:g.37038684_37038686delinsTTC	GRCh37
NC_000005.8:g.37074441_37074443delinsTTC	NCBI36
NG_006987.1:g.166700_166702delinsTTC
NG_006987.2:g.166700_166702delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-20_5972-18delinsTTC MANE Select	ENSP00000282516.8:n.5972-20_5972-18delinsTTC
ENST00000652901.1:c.5972-20_5972-18delinsTTC	ENSP00000499536.1:n.5972-20_5972-18delinsTTC
ENST00000282516.12:c.5972-20_5972-18delinsTTC	ENSP00000282516.8:n.5972-20_5972-18delinsTTC
ENST00000448238.2:c.5972-20_5972-18delinsTTC	ENSP00000406266.2:n.5972-20_5972-18delinsTTC
ENST00000621733.1:c.1-25996_1-25994delinsTTC	ENSP00000480694.1:n.1-25996_1-25994delinsTTC
NM_015384.4:c.5972-20_5972-18delinsTTC	NP_056199.2:n.5972-20_5972-18delinsTTC
NM_133433.3:c.5972-20_5972-18delinsTTC	NP_597677.2:n.5972-20_5972-18delinsTTC
XM_005248280.2:c.5972-20_5972-18delinsTTC	XP_005248337.1:n.5972-20_5972-18delinsTTC
XM_005248282.3:c.5228-20_5228-18delinsTTC	XP_005248339.2:n.5228-20_5228-18delinsTTC
XM_006714467.2:c.5972-20_5972-18delinsTTC	XP_006714530.1:n.5972-20_5972-18delinsTTC
XM_006714468.1:c.5774-20_5774-18delinsTTC	XP_006714531.1:n.5774-20_5774-18delinsTTC
XM_011514014.1:c.5591-20_5591-18delinsTTC	XP_011512316.1:n.5591-20_5591-18delinsTTC
XM_011514015.1:c.5972-20_5972-18delinsTTC	XP_011512317.1:n.5972-20_5972-18delinsTTC
XM_005248280.3:c.5972-20_5972-18delinsTTC	XP_005248337.1:n.5972-20_5972-18delinsTTC
XM_005248282.5:c.5312-20_5312-18delinsTTC	XP_005248339.3:n.5312-20_5312-18delinsTTC
XM_006714468.2:c.5774-20_5774-18delinsTTC	XP_006714531.1:n.5774-20_5774-18delinsTTC
XM_017009329.1:c.5972-20_5972-18delinsTTC	XP_016864818.1:n.5972-20_5972-18delinsTTC
XM_017009330.2:c.4355-20_4355-18delinsTTC	XP_016864819.1:n.4355-20_4355-18delinsTTC
XM_017009331.1:c.4346-20_4346-18delinsTTC	XP_016864820.1:n.4346-20_4346-18delinsTTC
NM_133433.4:c.5972-20_5972-18delinsTTC MANE Select	NP_597677.2:n.5972-20_5972-18delinsTTC
NM_015384.5:c.5972-20_5972-18delinsTTC	NP_056199.2:n.5972-20_5972-18delinsTTC