Canonical Allele Identifier: CA1539588404
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37063742G= , CM000667.2:g.37063742G= GRCh38
NC_000005.9:g.37063844G= , CM000667.1:g.37063844G= GRCh37
NC_000005.8:g.37099601G= NCBI36
NG_006987.1:g.191860G=
NG_006987.2:g.191860G=

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.7861-48G= MANE Select ENSP00000282516.8:n.7861-48G=
ENST00000652901.1:c.7714-48G= ENSP00000499536.1:n.7714-48G=
ENST00000282516.12:c.7861-48G= ENSP00000282516.8:n.7861-48G=
ENST00000448238.2:c.7861-48G= ENSP00000406266.2:n.7861-48G=
ENST00000513819.1:c.264-48G= ENSP00000421504.1:n.264-48G=
ENST00000514335.1:n.1743-48G=
ENST00000621733.1:c.1-836G= ENSP00000480694.1:n.1-836G=
NM_015384.4:c.7861-48G= NP_056199.2:n.7861-48G=
NM_133433.3:c.7861-48G= NP_597677.2:n.7861-48G=
XM_005248280.2:c.7861-48G= XP_005248337.1:n.7861-48G=
XM_005248282.3:c.7117-48G= XP_005248339.2:n.7117-48G=
XM_006714467.2:c.7714-48G= XP_006714530.1:n.7714-48G=
XM_006714468.1:c.7663-48G= XP_006714531.1:n.7663-48G=
XM_011514014.1:c.7480-48G= XP_011512316.1:n.7480-48G=
XM_005248280.3:c.7861-48G= XP_005248337.1:n.7861-48G=
XM_005248282.5:c.7201-48G= XP_005248339.3:n.7201-48G=
XM_006714468.2:c.7663-48G= XP_006714531.1:n.7663-48G=
XM_017009329.1:c.7714-48G= XP_016864818.1:n.7714-48G=
XM_017009330.2:c.6244-48G= XP_016864819.1:n.6244-48G=
XM_017009331.1:c.6235-48G= XP_016864820.1:n.6235-48G=
NM_133433.4:c.7861-48G= MANE Select NP_597677.2:n.7861-48G=
NM_015384.5:c.7861-48G= NP_056199.2:n.7861-48G=