Canonical Allele Identifier: CA1539568705
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36975625_36975626delinsTC , CM000667.2:g.36975625_36975626delinsTC GRCh38
NC_000005.9:g.36975727_36975728delinsTC , CM000667.1:g.36975727_36975728delinsTC GRCh37
NC_000005.8:g.37011484_37011485delinsTC NCBI36
NG_006987.1:g.103743_103744delinsTC
NG_006987.2:g.103743_103744delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.869-151_869-150delinsTC MANE Select ENSP00000282516.8:n.869-151_869-150delinsTC
ENST00000652901.1:c.869-151_869-150delinsTC ENSP00000499536.1:n.869-151_869-150delinsTC
ENST00000282516.12:c.869-151_869-150delinsTC ENSP00000282516.8:n.869-151_869-150delinsTC
ENST00000448238.2:c.869-151_869-150delinsTC ENSP00000406266.2:n.869-151_869-150delinsTC
ENST00000504430.5:n.489-151_489-150delinsTC
ENST00000505998.5:n.848-151_848-150delinsTC
ENST00000621733.1:c.1-88953_1-88952delinsTC ENSP00000480694.1:n.1-88953_1-88952delinsTC
NM_015384.4:c.869-151_869-150delinsTC NP_056199.2:n.869-151_869-150delinsTC
NM_133433.3:c.869-151_869-150delinsTC NP_597677.2:n.869-151_869-150delinsTC
XM_005248280.2:c.869-151_869-150delinsTC XP_005248337.1:n.869-151_869-150delinsTC
XM_005248282.3:c.125-151_125-150delinsTC XP_005248339.2:n.125-151_125-150delinsTC
XM_006714467.2:c.869-151_869-150delinsTC XP_006714530.1:n.869-151_869-150delinsTC
XM_006714468.1:c.869-151_869-150delinsTC XP_006714531.1:n.869-151_869-150delinsTC
XM_011514014.1:c.869-151_869-150delinsTC XP_011512316.1:n.869-151_869-150delinsTC
XM_011514015.1:c.869-151_869-150delinsTC XP_011512317.1:n.869-151_869-150delinsTC
XM_005248280.3:c.869-151_869-150delinsTC XP_005248337.1:n.869-151_869-150delinsTC
XM_005248282.5:c.209-151_209-150delinsTC XP_005248339.3:n.209-151_209-150delinsTC
XM_006714468.2:c.869-151_869-150delinsTC XP_006714531.1:n.869-151_869-150delinsTC
XM_017009329.1:c.869-151_869-150delinsTC XP_016864818.1:n.869-151_869-150delinsTC
XM_017009331.1:c.869-151_869-150delinsTC XP_016864820.1:n.869-151_869-150delinsTC
NM_133433.4:c.869-151_869-150delinsTC MANE Select NP_597677.2:n.869-151_869-150delinsTC
NM_015384.5:c.869-151_869-150delinsTC NP_056199.2:n.869-151_869-150delinsTC