Canonical Allele Identifier: CA1539569107

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975927_36975935delinsGAAAGCGGC , CM000667.2:g.36975927_36975935delinsGAAAGCGGC	GRCh38
NC_000005.9:g.36976029_36976037delinsGAAAGCGGC , CM000667.1:g.36976029_36976037delinsGAAAGCGGC	GRCh37
NC_000005.8:g.37011786_37011794delinsGAAAGCGGC	NCBI36
NG_006987.1:g.104045_104053delinsGAAAGCGGC
NG_006987.2:g.104045_104053delinsGAAAGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1020_1028delinsGAAAGCGGC MANE Select	ENSP00000282516.8:p.Glu340=
ENST00000652901.1:c.1020_1028delinsGAAAGCGGC	ENSP00000499536.1:p.Glu340=
ENST00000282516.12:c.1020_1028delinsGAAAGCGGC	ENSP00000282516.8:p.Glu340=
ENST00000448238.2:c.1020_1028delinsGAAAGCGGC	ENSP00000406266.2:p.Glu340=
ENST00000504430.5:n.640_648delinsGAAAGCGGC
ENST00000621733.1:c.1-88651_1-88643delinsGAAAGCGGC	ENSP00000480694.1:n.1-88651_1-88643delinsGAAAGCGGC
NM_015384.4:c.1020_1028delinsGAAAGCGGC	NP_056199.2:p.Glu340=
NM_133433.3:c.1020_1028delinsGAAAGCGGC	NP_597677.2:p.Glu340=
XM_005248280.2:c.1020_1028delinsGAAAGCGGC	XP_005248337.1:p.Glu340=
XM_005248282.3:c.276_284delinsGAAAGCGGC	XP_005248339.2:p.Glu92=
XM_006714467.2:c.1020_1028delinsGAAAGCGGC	XP_006714530.1:p.Glu340=
XM_006714468.1:c.1020_1028delinsGAAAGCGGC	XP_006714531.1:p.Glu340=
XM_011514014.1:c.1020_1028delinsGAAAGCGGC	XP_011512316.1:p.Glu340=
XM_011514015.1:c.1020_1028delinsGAAAGCGGC	XP_011512317.1:p.Glu340=
XM_005248280.3:c.1020_1028delinsGAAAGCGGC	XP_005248337.1:p.Glu340=
XM_005248282.5:c.360_368delinsGAAAGCGGC	XP_005248339.3:p.Glu120=
XM_006714468.2:c.1020_1028delinsGAAAGCGGC	XP_006714531.1:p.Glu340=
XM_017009329.1:c.1020_1028delinsGAAAGCGGC	XP_016864818.1:p.Glu340=
XM_017009331.1:c.1020_1028delinsGAAAGCGGC	XP_016864820.1:p.Glu340=
NM_133433.4:c.1020_1028delinsGAAAGCGGC MANE Select	NP_597677.2:p.Glu340=
NM_015384.5:c.1020_1028delinsGAAAGCGGC	NP_056199.2:p.Glu340=