Canonical Allele Identifier: CA645541404
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958218_36958222del , CM000667.2:g.36958218_36958222del GRCh38
NC_000005.9:g.36958320_36958324del , CM000667.1:g.36958320_36958324del GRCh37
NC_000005.8:g.36994077_36994081del NCBI36
NG_006987.1:g.86336_86340del
NG_006987.2:g.86336_86340del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.345_349del MANE Select ENSP00000282516.8:p.Arg115SerfsTer11
ENST00000652901.1:c.345_349del ENSP00000499536.1:p.Arg115SerfsTer11
ENST00000282516.12:c.345_349del ENSP00000282516.8:p.Arg115SerfsTer11
ENST00000448238.2:c.345_349del ENSP00000406266.2:p.Arg115SerfsTer11
ENST00000505998.5:n.324_328del
ENST00000621733.1:c.-1+81196_-1+81200del ENSP00000480694.1:n.-1+81196_-1+81200del
NM_015384.4:c.345_349del NP_056199.2:p.Arg115SerfsTer11
NM_133433.3:c.345_349del NP_597677.2:p.Arg115SerfsTer11
XM_005248280.2:c.345_349del XP_005248337.1:p.Arg115SerfsTer11
XM_006714467.2:c.345_349del XP_006714530.1:p.Arg115SerfsTer11
XM_006714468.1:c.345_349del XP_006714531.1:p.Arg115SerfsTer11
XM_011514014.1:c.345_349del XP_011512316.1:p.Arg115SerfsTer11
XM_011514015.1:c.345_349del XP_011512317.1:p.Arg115SerfsTer11
XM_005248280.3:c.345_349del XP_005248337.1:p.Arg115SerfsTer11
XM_006714468.2:c.345_349del XP_006714531.1:p.Arg115SerfsTer11
XM_017009329.1:c.345_349del XP_016864818.1:p.Arg115SerfsTer11
XM_017009331.1:c.345_349del XP_016864820.1:p.Arg115SerfsTer11
NM_133433.4:c.345_349del MANE Select NP_597677.2:p.Arg115SerfsTer11
NM_015384.5:c.345_349del NP_056199.2:p.Arg115SerfsTer11