Canonical Allele Identifier: CA2765898093

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986023dup , CM000667.2:g.36986023dup	GRCh38
NC_000005.9:g.36986125dup , CM000667.1:g.36986125dup	GRCh37
NC_000005.8:g.37021882dup	NCBI36
NG_006987.1:g.114141dup
NG_006987.2:g.114141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2843dup MANE Select	ENSP00000282516.8:p.Arg949GlnfsTer17
ENST00000652901.1:c.2843dup	ENSP00000499536.1:p.Arg949GlnfsTer17
ENST00000282516.12:c.2843dup	ENSP00000282516.8:p.Arg949GlnfsTer17
ENST00000448238.2:c.2843dup	ENSP00000406266.2:p.Arg949GlnfsTer17
ENST00000504430.5:n.2463dup
ENST00000621733.1:c.1-78555dup	ENSP00000480694.1:n.1-78555dup
NM_015384.4:c.2843dup	NP_056199.2:p.Arg949GlnfsTer17
NM_133433.3:c.2843dup	NP_597677.2:p.Arg949GlnfsTer17
XM_005248280.2:c.2843dup	XP_005248337.1:p.Arg949GlnfsTer17
XM_005248282.3:c.2099dup	XP_005248339.2:p.Arg701GlnfsTer17
XM_006714467.2:c.2843dup	XP_006714530.1:p.Arg949GlnfsTer17
XM_006714468.1:c.2843dup	XP_006714531.1:p.Arg949GlnfsTer17
XM_011514014.1:c.2843dup	XP_011512316.1:p.Arg949GlnfsTer17
XM_011514015.1:c.2843dup	XP_011512317.1:p.Arg949GlnfsTer17
XM_005248280.3:c.2843dup	XP_005248337.1:p.Arg949GlnfsTer17
XM_005248282.5:c.2183dup	XP_005248339.3:p.Arg729GlnfsTer17
XM_006714468.2:c.2843dup	XP_006714531.1:p.Arg949GlnfsTer17
XM_017009329.1:c.2843dup	XP_016864818.1:p.Arg949GlnfsTer17
XM_017009330.2:c.1226dup	XP_016864819.1:p.Arg410GlnfsTer17
XM_017009331.1:c.1496-9599dup	XP_016864820.1:n.1496-9599dup
NM_133433.4:c.2843dup MANE Select	NP_597677.2:p.Arg949GlnfsTer17
NM_015384.5:c.2843dup	NP_056199.2:p.Arg949GlnfsTer17