Canonical Allele Identifier: CA1539571516
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37051893A= , CM000667.2:g.37051893A= GRCh38
NC_000005.9:g.37051995A= , CM000667.1:g.37051995A= GRCh37
NC_000005.8:g.37087752A= NCBI36
NG_006987.1:g.180011A=
NG_006987.2:g.180011A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.7062+7A= MANE Select ENSP00000282516.8:n.7062+7A=
ENST00000652901.1:c.7062+7A= ENSP00000499536.1:n.7062+7A=
ENST00000282516.12:c.7062+7A= ENSP00000282516.8:n.7062+7A=
ENST00000448238.2:c.7062+7A= ENSP00000406266.2:n.7062+7A=
ENST00000514335.1:n.944+7A=
ENST00000621733.1:c.1-12685A= ENSP00000480694.1:n.1-12685A=
NM_015384.4:c.7062+7A= NP_056199.2:n.7062+7A=
NM_133433.3:c.7062+7A= NP_597677.2:n.7062+7A=
XM_005248280.2:c.7062+7A= XP_005248337.1:n.7062+7A=
XM_005248282.3:c.6318+7A= XP_005248339.2:n.6318+7A=
XM_006714467.2:c.7062+7A= XP_006714530.1:n.7062+7A=
XM_006714468.1:c.6864+7A= XP_006714531.1:n.6864+7A=
XM_011514014.1:c.6681+7A= XP_011512316.1:n.6681+7A=
XM_011514015.1:c.7062+7A= XP_011512317.1:n.7062+7A=
XM_005248280.3:c.7062+7A= XP_005248337.1:n.7062+7A=
XM_005248282.5:c.6402+7A= XP_005248339.3:n.6402+7A=
XM_006714468.2:c.6864+7A= XP_006714531.1:n.6864+7A=
XM_017009329.1:c.7062+7A= XP_016864818.1:n.7062+7A=
XM_017009330.2:c.5445+7A= XP_016864819.1:n.5445+7A=
XM_017009331.1:c.5436+7A= XP_016864820.1:n.5436+7A=
NM_133433.4:c.7062+7A= MANE Select NP_597677.2:n.7062+7A=
NM_015384.5:c.7062+7A= NP_056199.2:n.7062+7A=