Canonical Allele Identifier: CA1539582892
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37060773C= , CM000667.2:g.37060773C= GRCh38
NC_000005.9:g.37060875C= , CM000667.1:g.37060875C= GRCh37
NC_000005.8:g.37096632C= NCBI36
NG_006987.1:g.188891C=
NG_006987.2:g.188891C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.7686-71C= MANE Select ENSP00000282516.8:n.7686-71C=
ENST00000652901.1:c.7539-71C= ENSP00000499536.1:n.7539-71C=
ENST00000282516.12:c.7686-71C= ENSP00000282516.8:n.7686-71C=
ENST00000448238.2:c.7686-71C= ENSP00000406266.2:n.7686-71C=
ENST00000513819.1:c.263+1608C= ENSP00000421504.1:n.263+1608C=
ENST00000514335.1:n.1568-71C=
ENST00000621733.1:c.1-3805C= ENSP00000480694.1:n.1-3805C=
NM_015384.4:c.7686-71C= NP_056199.2:n.7686-71C=
NM_133433.3:c.7686-71C= NP_597677.2:n.7686-71C=
XM_005248280.2:c.7686-71C= XP_005248337.1:n.7686-71C=
XM_005248282.3:c.6942-71C= XP_005248339.2:n.6942-71C=
XM_006714467.2:c.7539-71C= XP_006714530.1:n.7539-71C=
XM_006714468.1:c.7488-71C= XP_006714531.1:n.7488-71C=
XM_011514014.1:c.7305-71C= XP_011512316.1:n.7305-71C=
XM_011514015.1:c.7264-71C= XP_011512317.1:n.7264-71C=
XM_005248280.3:c.7686-71C= XP_005248337.1:n.7686-71C=
XM_005248282.5:c.7026-71C= XP_005248339.3:n.7026-71C=
XM_006714468.2:c.7488-71C= XP_006714531.1:n.7488-71C=
XM_017009329.1:c.7539-71C= XP_016864818.1:n.7539-71C=
XM_017009330.2:c.6069-71C= XP_016864819.1:n.6069-71C=
XM_017009331.1:c.6060-71C= XP_016864820.1:n.6060-71C=
NM_133433.4:c.7686-71C= MANE Select NP_597677.2:n.7686-71C=
NM_015384.5:c.7686-71C= NP_056199.2:n.7686-71C=