Canonical Allele Identifier: CA2695204364

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060983dup , CM000667.2:g.37060983dup	GRCh38
NC_000005.9:g.37061085dup , CM000667.1:g.37061085dup	GRCh37
NC_000005.8:g.37096842dup	NCBI36
NG_006987.1:g.189101dup
NG_006987.2:g.189101dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7825dup MANE Select	ENSP00000282516.8:p.Glu2609GlyfsTer23
ENST00000652901.1:c.7678dup	ENSP00000499536.1:p.Glu2560GlyfsTer23
ENST00000282516.12:c.7825dup	ENSP00000282516.8:p.Glu2609GlyfsTer23
ENST00000448238.2:c.7825dup	ENSP00000406266.2:p.Glu2609GlyfsTer23
ENST00000513819.1:c.263+1818dup	ENSP00000421504.1:n.263+1818dup
ENST00000514335.1:n.1707dup
ENST00000621733.1:c.1-3595dup	ENSP00000480694.1:n.1-3595dup
NM_015384.4:c.7825dup	NP_056199.2:p.Glu2609GlyfsTer23
NM_133433.3:c.7825dup	NP_597677.2:p.Glu2609GlyfsTer23
XM_005248280.2:c.7825dup	XP_005248337.1:p.Glu2609GlyfsTer23
XM_005248282.3:c.7081dup	XP_005248339.2:p.Glu2361GlyfsTer23
XM_006714467.2:c.7678dup	XP_006714530.1:p.Glu2560GlyfsTer23
XM_006714468.1:c.7627dup	XP_006714531.1:p.Glu2543GlyfsTer23
XM_011514014.1:c.7444dup	XP_011512316.1:p.Glu2482GlyfsTer23
XM_005248280.3:c.7825dup	XP_005248337.1:p.Glu2609GlyfsTer23
XM_005248282.5:c.7165dup	XP_005248339.3:p.Glu2389GlyfsTer23
XM_006714468.2:c.7627dup	XP_006714531.1:p.Glu2543GlyfsTer23
XM_017009329.1:c.7678dup	XP_016864818.1:p.Glu2560GlyfsTer23
XM_017009330.2:c.6208dup	XP_016864819.1:p.Glu2070GlyfsTer23
XM_017009331.1:c.6199dup	XP_016864820.1:p.Glu2067GlyfsTer23
NM_133433.4:c.7825dup MANE Select	NP_597677.2:p.Glu2609GlyfsTer23
NM_015384.5:c.7825dup	NP_056199.2:p.Glu2609GlyfsTer23