Canonical Allele Identifier: CA645546380

Gene: NIPBL

Linked Data

• COSMIC: COSM6023470 ; COSM6023471

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049131del , CM000667.2:g.37049131del	GRCh38
NC_000005.9:g.37049233del , CM000667.1:g.37049233del	GRCh37
NC_000005.8:g.37084990del	NCBI36
NG_006987.1:g.177249del
NG_006987.2:g.177249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6784del MANE Select	ENSP00000282516.8:p.Glu2262LysfsTer3
ENST00000652901.1:c.6784del	ENSP00000499536.1:p.Glu2262LysfsTer3
ENST00000282516.12:c.6784del	ENSP00000282516.8:p.Glu2262LysfsTer3
ENST00000448238.2:c.6784del	ENSP00000406266.2:p.Glu2262LysfsTer3
ENST00000621733.1:c.1-15447del	ENSP00000480694.1:n.1-15447del
NM_015384.4:c.6784del	NP_056199.2:p.Glu2262LysfsTer3
NM_133433.3:c.6784del	NP_597677.2:p.Glu2262LysfsTer3
XM_005248280.2:c.6784del	XP_005248337.1:p.Glu2262LysfsTer3
XM_005248282.3:c.6040del	XP_005248339.2:p.Glu2014LysfsTer3
XM_006714467.2:c.6784del	XP_006714530.1:p.Glu2262LysfsTer3
XM_006714468.1:c.6586del	XP_006714531.1:p.Glu2196LysfsTer3
XM_011514014.1:c.6403del	XP_011512316.1:p.Glu2135LysfsTer3
XM_011514015.1:c.6784del	XP_011512317.1:p.Glu2262LysfsTer3
XM_005248280.3:c.6784del	XP_005248337.1:p.Glu2262LysfsTer3
XM_005248282.5:c.6124del	XP_005248339.3:p.Glu2042LysfsTer3
XM_006714468.2:c.6586del	XP_006714531.1:p.Glu2196LysfsTer3
XM_017009329.1:c.6784del	XP_016864818.1:p.Glu2262LysfsTer3
XM_017009330.2:c.5167del	XP_016864819.1:p.Glu1723LysfsTer3
XM_017009331.1:c.5158del	XP_016864820.1:p.Glu1720LysfsTer3
NM_133433.4:c.6784del MANE Select	NP_597677.2:p.Glu2262LysfsTer3
NM_015384.5:c.6784del	NP_056199.2:p.Glu2262LysfsTer3