Canonical Allele Identifier: CA2840181714

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36955680dup , CM000667.2:g.36955680dup	GRCh38
NC_000005.9:g.36955782dup , CM000667.1:g.36955782dup	GRCh37
NC_000005.8:g.36991539dup	NCBI36
NG_006987.1:g.83798dup
NG_006987.2:g.83798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.230+43dup MANE Select	ENSP00000282516.8:n.230+43dup
ENST00000652901.1:c.230+43dup	ENSP00000499536.1:n.230+43dup
ENST00000282516.12:c.230+43dup	ENSP00000282516.8:n.230+43dup
ENST00000448238.2:c.230+43dup	ENSP00000406266.2:n.230+43dup
ENST00000505998.5:n.209+43dup
ENST00000621733.1:c.-1+78658dup	ENSP00000480694.1:n.-1+78658dup
NM_015384.4:c.230+43dup	NP_056199.2:n.230+43dup
NM_133433.3:c.230+43dup	NP_597677.2:n.230+43dup
XM_005248280.2:c.230+43dup	XP_005248337.1:n.230+43dup
XM_006714467.2:c.230+43dup	XP_006714530.1:n.230+43dup
XM_006714468.1:c.230+43dup	XP_006714531.1:n.230+43dup
XM_011514014.1:c.230+43dup	XP_011512316.1:n.230+43dup
XM_011514015.1:c.230+43dup	XP_011512317.1:n.230+43dup
XM_005248280.3:c.230+43dup	XP_005248337.1:n.230+43dup
XM_006714468.2:c.230+43dup	XP_006714531.1:n.230+43dup
XM_017009329.1:c.230+43dup	XP_016864818.1:n.230+43dup
XM_017009331.1:c.230+43dup	XP_016864820.1:n.230+43dup
NM_133433.4:c.230+43dup MANE Select	NP_597677.2:n.230+43dup
NM_015384.5:c.230+43dup	NP_056199.2:n.230+43dup