Canonical Allele Identifier: CA2840182094

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020562_37020563insAATATTAAAGTTTACT , CM000667.2:g.37020562_37020563insAATATTAAAGTTTACT	GRCh38
NC_000005.9:g.37020664_37020665insAATATTAAAGTTTACT , CM000667.1:g.37020664_37020665insAATATTAAAGTTTACT	GRCh37
NC_000005.8:g.37056421_37056422insAATATTAAAGTTTACT	NCBI36
NG_006987.1:g.148680_148681insAATATTAAAGTTTACT
NG_006987.2:g.148680_148681insAATATTAAAGTTTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5114_5115insAATATTAAAGTTTACT MANE Select	ENSP00000282516.8:p.His1705GlnfsTer12
ENST00000652901.1:c.5114_5115insAATATTAAAGTTTACT	ENSP00000499536.1:p.His1705GlnfsTer12
ENST00000282516.12:c.5114_5115insAATATTAAAGTTTACT	ENSP00000282516.8:p.His1705GlnfsTer12
ENST00000448238.2:c.5114_5115insAATATTAAAGTTTACT	ENSP00000406266.2:p.His1705GlnfsTer12
ENST00000621733.1:c.1-44016_1-44015insAATATTAAAGTTTACT	ENSP00000480694.1:n.1-44016_1-44015insAATATTAAAGTTTACT
NM_015384.4:c.5114_5115insAATATTAAAGTTTACT	NP_056199.2:p.His1705GlnfsTer12
NM_133433.3:c.5114_5115insAATATTAAAGTTTACT	NP_597677.2:p.His1705GlnfsTer12
XM_005248280.2:c.5114_5115insAATATTAAAGTTTACT	XP_005248337.1:p.His1705GlnfsTer12
XM_005248282.3:c.4370_4371insAATATTAAAGTTTACT	XP_005248339.2:p.His1457GlnfsTer12
XM_006714467.2:c.5114_5115insAATATTAAAGTTTACT	XP_006714530.1:p.His1705GlnfsTer12
XM_006714468.1:c.4916_4917insAATATTAAAGTTTACT	XP_006714531.1:p.His1639GlnfsTer12
XM_011514014.1:c.4733_4734insAATATTAAAGTTTACT	XP_011512316.1:p.His1578GlnfsTer12
XM_011514015.1:c.5114_5115insAATATTAAAGTTTACT	XP_011512317.1:p.His1705GlnfsTer12
XM_005248280.3:c.5114_5115insAATATTAAAGTTTACT	XP_005248337.1:p.His1705GlnfsTer12
XM_005248282.5:c.4454_4455insAATATTAAAGTTTACT	XP_005248339.3:p.His1485GlnfsTer12
XM_006714468.2:c.4916_4917insAATATTAAAGTTTACT	XP_006714531.1:p.His1639GlnfsTer12
XM_017009329.1:c.5114_5115insAATATTAAAGTTTACT	XP_016864818.1:p.His1705GlnfsTer12
XM_017009330.2:c.3497_3498insAATATTAAAGTTTACT	XP_016864819.1:p.His1166GlnfsTer12
XM_017009331.1:c.3488_3489insAATATTAAAGTTTACT	XP_016864820.1:p.His1163GlnfsTer12
NM_133433.4:c.5114_5115insAATATTAAAGTTTACT MANE Select	NP_597677.2:p.His1705GlnfsTer12
NM_015384.5:c.5114_5115insAATATTAAAGTTTACT	NP_056199.2:p.His1705GlnfsTer12