Canonical Allele Identifier: CA267540
Gene: NIPBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37017048_37017049del , CM000667.2:g.37017048_37017049del GRCh38
NC_000005.9:g.37017150_37017151del , CM000667.1:g.37017150_37017151del GRCh37
NC_000005.8:g.37052907_37052908del NCBI36
NG_006987.1:g.145166_145167del
NG_006987.2:g.145166_145167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.4806_4807del MANE Select ENSP00000282516.8:p.Glu1602AspfsTer9
ENST00000652901.1:c.4806_4807del ENSP00000499536.1:p.Glu1602AspfsTer9
ENST00000282516.12:c.4806_4807del ENSP00000282516.8:p.Glu1602AspfsTer9
ENST00000448238.2:c.4806_4807del ENSP00000406266.2:p.Glu1602AspfsTer9
ENST00000621733.1:c.1-47530_1-47529del ENSP00000480694.1:n.1-47530_1-47529del
NM_015384.4:c.4806_4807del NP_056199.2:p.Glu1602AspfsTer9
NM_133433.3:c.4806_4807del NP_597677.2:p.Glu1602AspfsTer9
XM_005248280.2:c.4806_4807del XP_005248337.1:p.Glu1602AspfsTer9
XM_005248282.3:c.4062_4063del XP_005248339.2:p.Glu1354AspfsTer9
XM_006714467.2:c.4806_4807del XP_006714530.1:p.Glu1602AspfsTer9
XM_006714468.1:c.4608_4609del XP_006714531.1:p.Glu1536AspfsTer9
XM_011514014.1:c.4425_4426del XP_011512316.1:p.Glu1475AspfsTer9
XM_011514015.1:c.4806_4807del XP_011512317.1:p.Glu1602AspfsTer9
XM_005248280.3:c.4806_4807del XP_005248337.1:p.Glu1602AspfsTer9
XM_005248282.5:c.4146_4147del XP_005248339.3:p.Glu1382AspfsTer9
XM_006714468.2:c.4608_4609del XP_006714531.1:p.Glu1536AspfsTer9
XM_017009329.1:c.4806_4807del XP_016864818.1:p.Glu1602AspfsTer9
XM_017009330.2:c.3189_3190del XP_016864819.1:p.Glu1063AspfsTer9
XM_017009331.1:c.3180_3181del XP_016864820.1:p.Glu1060AspfsTer9
NM_133433.4:c.4806_4807del MANE Select NP_597677.2:p.Glu1602AspfsTer9
NM_015384.5:c.4806_4807del NP_056199.2:p.Glu1602AspfsTer9
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