Canonical Allele Identifier: CA1539601664
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37001091T= , CM000667.2:g.37001091T= GRCh38
NC_000005.9:g.37001193T= , CM000667.1:g.37001193T= GRCh37
NC_000005.8:g.37036950T= NCBI36
NG_006987.1:g.129209T=
NG_006987.2:g.129209T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.3664+13T= MANE Select ENSP00000282516.8:n.3664+13T=
ENST00000652901.1:c.3664+13T= ENSP00000499536.1:n.3664+13T=
ENST00000282516.12:c.3664+13T= ENSP00000282516.8:n.3664+13T=
ENST00000448238.2:c.3664+13T= ENSP00000406266.2:n.3664+13T=
ENST00000621733.1:c.1-63487T= ENSP00000480694.1:n.1-63487T=
NM_015384.4:c.3664+13T= NP_056199.2:n.3664+13T=
NM_133433.3:c.3664+13T= NP_597677.2:n.3664+13T=
XM_005248280.2:c.3664+13T= XP_005248337.1:n.3664+13T=
XM_005248282.3:c.2920+13T= XP_005248339.2:n.2920+13T=
XM_006714467.2:c.3664+13T= XP_006714530.1:n.3664+13T=
XM_006714468.1:c.3466+13T= XP_006714531.1:n.3466+13T=
XM_011514014.1:c.3283+13T= XP_011512316.1:n.3283+13T=
XM_011514015.1:c.3664+13T= XP_011512317.1:n.3664+13T=
XM_005248280.3:c.3664+13T= XP_005248337.1:n.3664+13T=
XM_005248282.5:c.3004+13T= XP_005248339.3:n.3004+13T=
XM_006714468.2:c.3466+13T= XP_006714531.1:n.3466+13T=
XM_017009329.1:c.3664+13T= XP_016864818.1:n.3664+13T=
XM_017009330.2:c.2047+13T= XP_016864819.1:n.2047+13T=
XM_017009331.1:c.2038+13T= XP_016864820.1:n.2038+13T=
NM_133433.4:c.3664+13T= MANE Select NP_597677.2:n.3664+13T=
NM_015384.5:c.3664+13T= NP_056199.2:n.3664+13T=