Canonical Allele Identifier: CA267556
Gene: NIPBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37048553_37048559del , CM000667.2:g.37048553_37048559del GRCh38
NC_000005.9:g.37048655_37048661del , CM000667.1:g.37048655_37048661del GRCh37
NC_000005.8:g.37084412_37084418del NCBI36
NG_006987.1:g.176671_176677del
NG_006987.2:g.176671_176677del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.6641_6647del MANE Select ENSP00000282516.8:p.Asn2214IlefsTer14
ENST00000652901.1:c.6641_6647del ENSP00000499536.1:p.Asn2214IlefsTer14
ENST00000282516.12:c.6641_6647del ENSP00000282516.8:p.Asn2214IlefsTer14
ENST00000448238.2:c.6641_6647del ENSP00000406266.2:p.Asn2214IlefsTer14
ENST00000621733.1:c.1-16025_1-16019del ENSP00000480694.1:n.1-16025_1-16019del
NM_015384.4:c.6641_6647del NP_056199.2:p.Asn2214IlefsTer14
NM_133433.3:c.6641_6647del NP_597677.2:p.Asn2214IlefsTer14
XM_005248280.2:c.6641_6647del XP_005248337.1:p.Asn2214IlefsTer14
XM_005248282.3:c.5897_5903del XP_005248339.2:p.Asn1966IlefsTer14
XM_006714467.2:c.6641_6647del XP_006714530.1:p.Asn2214IlefsTer14
XM_006714468.1:c.6443_6449del XP_006714531.1:p.Asn2148IlefsTer14
XM_011514014.1:c.6260_6266del XP_011512316.1:p.Asn2087IlefsTer14
XM_011514015.1:c.6641_6647del XP_011512317.1:p.Asn2214IlefsTer14
XM_005248280.3:c.6641_6647del XP_005248337.1:p.Asn2214IlefsTer14
XM_005248282.5:c.5981_5987del XP_005248339.3:p.Asn1994IlefsTer14
XM_006714468.2:c.6443_6449del XP_006714531.1:p.Asn2148IlefsTer14
XM_017009329.1:c.6641_6647del XP_016864818.1:p.Asn2214IlefsTer14
XM_017009330.2:c.5024_5030del XP_016864819.1:p.Asn1675IlefsTer14
XM_017009331.1:c.5015_5021del XP_016864820.1:p.Asn1672IlefsTer14
NM_133433.4:c.6641_6647del MANE Select NP_597677.2:p.Asn2214IlefsTer14
NM_015384.5:c.6641_6647del NP_056199.2:p.Asn2214IlefsTer14
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