Canonical Allele Identifier: CA1539615182
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37015794_37015795delinsGT , CM000667.2:g.37015794_37015795delinsGT GRCh38
NC_000005.9:g.37015896_37015897delinsGT , CM000667.1:g.37015896_37015897delinsGT GRCh37
NC_000005.8:g.37051653_37051654delinsGT NCBI36
NG_006987.1:g.143912_143913delinsGT
NG_006987.2:g.143912_143913delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.4644-244_4644-243delinsGT MANE Select ENSP00000282516.8:n.4644-244_4644-243delinsGT
ENST00000652901.1:c.4644-244_4644-243delinsGT ENSP00000499536.1:n.4644-244_4644-243delinsGT
ENST00000282516.12:c.4644-244_4644-243delinsGT ENSP00000282516.8:n.4644-244_4644-243delinsGT
ENST00000448238.2:c.4644-244_4644-243delinsGT ENSP00000406266.2:n.4644-244_4644-243delinsGT
ENST00000621733.1:c.1-48784_1-48783delinsGT ENSP00000480694.1:n.1-48784_1-48783delinsGT
NM_015384.4:c.4644-244_4644-243delinsGT NP_056199.2:n.4644-244_4644-243delinsGT
NM_133433.3:c.4644-244_4644-243delinsGT NP_597677.2:n.4644-244_4644-243delinsGT
XM_005248280.2:c.4644-244_4644-243delinsGT XP_005248337.1:n.4644-244_4644-243delinsGT
XM_005248282.3:c.3900-244_3900-243delinsGT XP_005248339.2:n.3900-244_3900-243delinsGT
XM_006714467.2:c.4644-244_4644-243delinsGT XP_006714530.1:n.4644-244_4644-243delinsGT
XM_006714468.1:c.4446-244_4446-243delinsGT XP_006714531.1:n.4446-244_4446-243delinsGT
XM_011514014.1:c.4263-244_4263-243delinsGT XP_011512316.1:n.4263-244_4263-243delinsGT
XM_011514015.1:c.4644-244_4644-243delinsGT XP_011512317.1:n.4644-244_4644-243delinsGT
XM_005248280.3:c.4644-244_4644-243delinsGT XP_005248337.1:n.4644-244_4644-243delinsGT
XM_005248282.5:c.3984-244_3984-243delinsGT XP_005248339.3:n.3984-244_3984-243delinsGT
XM_006714468.2:c.4446-244_4446-243delinsGT XP_006714531.1:n.4446-244_4446-243delinsGT
XM_017009329.1:c.4644-244_4644-243delinsGT XP_016864818.1:n.4644-244_4644-243delinsGT
XM_017009330.2:c.3027-244_3027-243delinsGT XP_016864819.1:n.3027-244_3027-243delinsGT
XM_017009331.1:c.3018-244_3018-243delinsGT XP_016864820.1:n.3018-244_3018-243delinsGT
NM_133433.4:c.4644-244_4644-243delinsGT MANE Select NP_597677.2:n.4644-244_4644-243delinsGT
NM_015384.5:c.4644-244_4644-243delinsGT NP_056199.2:n.4644-244_4644-243delinsGT