Canonical Allele Identifier: CA2765911159
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37060572_37060574del , CM000667.2:g.37060572_37060574del GRCh38
NC_000005.9:g.37060674_37060676del , CM000667.1:g.37060674_37060676del GRCh37
NC_000005.8:g.37096431_37096433del NCBI36
NG_006987.1:g.188690_188692del
NG_006987.2:g.188690_188692del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.7686-272_7686-270del MANE Select ENSP00000282516.8:n.7686-272_7686-270del
ENST00000652901.1:c.7539-272_7539-270del ENSP00000499536.1:n.7539-272_7539-270del
ENST00000282516.12:c.7686-272_7686-270del ENSP00000282516.8:n.7686-272_7686-270del
ENST00000448238.2:c.7686-272_7686-270del ENSP00000406266.2:n.7686-272_7686-270del
ENST00000513819.1:c.263+1407_263+1409del ENSP00000421504.1:n.263+1407_263+1409del
ENST00000514335.1:n.1568-272_1568-270del
ENST00000621733.1:c.1-4006_1-4004del ENSP00000480694.1:n.1-4006_1-4004del
NM_015384.4:c.7686-272_7686-270del NP_056199.2:n.7686-272_7686-270del
NM_133433.3:c.7686-272_7686-270del NP_597677.2:n.7686-272_7686-270del
XM_005248280.2:c.7686-272_7686-270del XP_005248337.1:n.7686-272_7686-270del
XM_005248282.3:c.6942-272_6942-270del XP_005248339.2:n.6942-272_6942-270del
XM_006714467.2:c.7539-272_7539-270del XP_006714530.1:n.7539-272_7539-270del
XM_006714468.1:c.7488-272_7488-270del XP_006714531.1:n.7488-272_7488-270del
XM_011514014.1:c.7305-272_7305-270del XP_011512316.1:n.7305-272_7305-270del
XM_011514015.1:c.7264-272_7264-270del XP_011512317.1:n.7264-272_7264-270del
XM_005248280.3:c.7686-272_7686-270del XP_005248337.1:n.7686-272_7686-270del
XM_005248282.5:c.7026-272_7026-270del XP_005248339.3:n.7026-272_7026-270del
XM_006714468.2:c.7488-272_7488-270del XP_006714531.1:n.7488-272_7488-270del
XM_017009329.1:c.7539-272_7539-270del XP_016864818.1:n.7539-272_7539-270del
XM_017009330.2:c.6069-272_6069-270del XP_016864819.1:n.6069-272_6069-270del
XM_017009331.1:c.6060-272_6060-270del XP_016864820.1:n.6060-272_6060-270del
NM_133433.4:c.7686-272_7686-270del MANE Select NP_597677.2:n.7686-272_7686-270del
NM_015384.5:c.7686-272_7686-270del NP_056199.2:n.7686-272_7686-270del