Canonical Allele Identifier: CA1539572009

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052323_37052325delinsCTT , CM000667.2:g.37052323_37052325delinsCTT	GRCh38
NC_000005.9:g.37052425_37052427delinsCTT , CM000667.1:g.37052425_37052427delinsCTT	GRCh37
NC_000005.8:g.37088182_37088184delinsCTT	NCBI36
NG_006987.1:g.180441_180443delinsCTT
NG_006987.2:g.180441_180443delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7063-43_7063-41delinsCTT MANE Select	ENSP00000282516.8:n.7063-43_7063-41delinsCTT
ENST00000652901.1:c.7063-43_7063-41delinsCTT	ENSP00000499536.1:n.7063-43_7063-41delinsCTT
ENST00000282516.12:c.7063-43_7063-41delinsCTT	ENSP00000282516.8:n.7063-43_7063-41delinsCTT
ENST00000448238.2:c.7063-43_7063-41delinsCTT	ENSP00000406266.2:n.7063-43_7063-41delinsCTT
ENST00000514335.1:n.945-43_945-41delinsCTT
ENST00000621733.1:c.1-12255_1-12253delinsCTT	ENSP00000480694.1:n.1-12255_1-12253delinsCTT
NM_015384.4:c.7063-43_7063-41delinsCTT	NP_056199.2:n.7063-43_7063-41delinsCTT
NM_133433.3:c.7063-43_7063-41delinsCTT	NP_597677.2:n.7063-43_7063-41delinsCTT
XM_005248280.2:c.7063-43_7063-41delinsCTT	XP_005248337.1:n.7063-43_7063-41delinsCTT
XM_005248282.3:c.6319-43_6319-41delinsCTT	XP_005248339.2:n.6319-43_6319-41delinsCTT
XM_006714467.2:c.7063-43_7063-41delinsCTT	XP_006714530.1:n.7063-43_7063-41delinsCTT
XM_006714468.1:c.6865-43_6865-41delinsCTT	XP_006714531.1:n.6865-43_6865-41delinsCTT
XM_011514014.1:c.6682-43_6682-41delinsCTT	XP_011512316.1:n.6682-43_6682-41delinsCTT
XM_011514015.1:c.7063-43_7063-41delinsCTT	XP_011512317.1:n.7063-43_7063-41delinsCTT
XM_005248280.3:c.7063-43_7063-41delinsCTT	XP_005248337.1:n.7063-43_7063-41delinsCTT
XM_005248282.5:c.6403-43_6403-41delinsCTT	XP_005248339.3:n.6403-43_6403-41delinsCTT
XM_006714468.2:c.6865-43_6865-41delinsCTT	XP_006714531.1:n.6865-43_6865-41delinsCTT
XM_017009329.1:c.7063-43_7063-41delinsCTT	XP_016864818.1:n.7063-43_7063-41delinsCTT
XM_017009330.2:c.5446-43_5446-41delinsCTT	XP_016864819.1:n.5446-43_5446-41delinsCTT
XM_017009331.1:c.5437-43_5437-41delinsCTT	XP_016864820.1:n.5437-43_5437-41delinsCTT
NM_133433.4:c.7063-43_7063-41delinsCTT MANE Select	NP_597677.2:n.7063-43_7063-41delinsCTT
NM_015384.5:c.7063-43_7063-41delinsCTT	NP_056199.2:n.7063-43_7063-41delinsCTT