Canonical Allele Identifier: CA267533
Gene: NIPBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37008053_37008062del , CM000667.2:g.37008053_37008062del GRCh38
NC_000005.9:g.37008155_37008164del , CM000667.1:g.37008155_37008164del GRCh37
NC_000005.8:g.37043912_37043921del NCBI36
NG_006987.1:g.136171_136180del
NG_006987.2:g.136171_136180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.4285_4294del MANE Select ENSP00000282516.8:p.Glu1429CysfsTer6
ENST00000652901.1:c.4285_4294del ENSP00000499536.1:p.Glu1429CysfsTer6
ENST00000282516.12:c.4285_4294del ENSP00000282516.8:p.Glu1429CysfsTer6
ENST00000448238.2:c.4285_4294del ENSP00000406266.2:p.Glu1429CysfsTer6
ENST00000621733.1:c.1-56525_1-56516del ENSP00000480694.1:n.1-56525_1-56516del
NM_015384.4:c.4285_4294del NP_056199.2:p.Glu1429CysfsTer6
NM_133433.3:c.4285_4294del NP_597677.2:p.Glu1429CysfsTer6
XM_005248280.2:c.4285_4294del XP_005248337.1:p.Glu1429CysfsTer6
XM_005248282.3:c.3541_3550del XP_005248339.2:p.Glu1181CysfsTer6
XM_006714467.2:c.4285_4294del XP_006714530.1:p.Glu1429CysfsTer6
XM_006714468.1:c.4087_4096del XP_006714531.1:p.Glu1363CysfsTer6
XM_011514014.1:c.3904_3913del XP_011512316.1:p.Glu1302CysfsTer6
XM_011514015.1:c.4285_4294del XP_011512317.1:p.Glu1429CysfsTer6
XM_005248280.3:c.4285_4294del XP_005248337.1:p.Glu1429CysfsTer6
XM_005248282.5:c.3625_3634del XP_005248339.3:p.Glu1209CysfsTer6
XM_006714468.2:c.4087_4096del XP_006714531.1:p.Glu1363CysfsTer6
XM_017009329.1:c.4285_4294del XP_016864818.1:p.Glu1429CysfsTer6
XM_017009330.2:c.2668_2677del XP_016864819.1:p.Glu890CysfsTer6
XM_017009331.1:c.2659_2668del XP_016864820.1:p.Glu887CysfsTer6
NM_133433.4:c.4285_4294del MANE Select NP_597677.2:p.Glu1429CysfsTer6
NM_015384.5:c.4285_4294del NP_056199.2:p.Glu1429CysfsTer6
Search 100 bp 5'
Search 100 bp 3'