Canonical Allele Identifier: CA1539611383

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038467_37038470delinsAACT , CM000667.2:g.37038467_37038470delinsAACT	GRCh38
NC_000005.9:g.37038569_37038572delinsAACT , CM000667.1:g.37038569_37038572delinsAACT	GRCh37
NC_000005.8:g.37074326_37074329delinsAACT	NCBI36
NG_006987.1:g.166585_166588delinsAACT
NG_006987.2:g.166585_166588delinsAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-135_5972-132delinsAACT MANE Select	ENSP00000282516.8:n.5972-135_5972-132delinsAACT
ENST00000652901.1:c.5972-135_5972-132delinsAACT	ENSP00000499536.1:n.5972-135_5972-132delinsAACT
ENST00000282516.12:c.5972-135_5972-132delinsAACT	ENSP00000282516.8:n.5972-135_5972-132delinsAACT
ENST00000448238.2:c.5972-135_5972-132delinsAACT	ENSP00000406266.2:n.5972-135_5972-132delinsAACT
ENST00000621733.1:c.1-26111_1-26108delinsAACT	ENSP00000480694.1:n.1-26111_1-26108delinsAACT
NM_015384.4:c.5972-135_5972-132delinsAACT	NP_056199.2:n.5972-135_5972-132delinsAACT
NM_133433.3:c.5972-135_5972-132delinsAACT	NP_597677.2:n.5972-135_5972-132delinsAACT
XM_005248280.2:c.5972-135_5972-132delinsAACT	XP_005248337.1:n.5972-135_5972-132delinsAACT
XM_005248282.3:c.5228-135_5228-132delinsAACT	XP_005248339.2:n.5228-135_5228-132delinsAACT
XM_006714467.2:c.5972-135_5972-132delinsAACT	XP_006714530.1:n.5972-135_5972-132delinsAACT
XM_006714468.1:c.5774-135_5774-132delinsAACT	XP_006714531.1:n.5774-135_5774-132delinsAACT
XM_011514014.1:c.5591-135_5591-132delinsAACT	XP_011512316.1:n.5591-135_5591-132delinsAACT
XM_011514015.1:c.5972-135_5972-132delinsAACT	XP_011512317.1:n.5972-135_5972-132delinsAACT
XM_005248280.3:c.5972-135_5972-132delinsAACT	XP_005248337.1:n.5972-135_5972-132delinsAACT
XM_005248282.5:c.5312-135_5312-132delinsAACT	XP_005248339.3:n.5312-135_5312-132delinsAACT
XM_006714468.2:c.5774-135_5774-132delinsAACT	XP_006714531.1:n.5774-135_5774-132delinsAACT
XM_017009329.1:c.5972-135_5972-132delinsAACT	XP_016864818.1:n.5972-135_5972-132delinsAACT
XM_017009330.2:c.4355-135_4355-132delinsAACT	XP_016864819.1:n.4355-135_4355-132delinsAACT
XM_017009331.1:c.4346-135_4346-132delinsAACT	XP_016864820.1:n.4346-135_4346-132delinsAACT
NM_133433.4:c.5972-135_5972-132delinsAACT MANE Select	NP_597677.2:n.5972-135_5972-132delinsAACT
NM_015384.5:c.5972-135_5972-132delinsAACT	NP_056199.2:n.5972-135_5972-132delinsAACT