Canonical Allele Identifier: CA1539601430
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000932_37000933delinsAG , CM000667.2:g.37000932_37000933delinsAG GRCh38
NC_000005.9:g.37001034_37001035delinsAG , CM000667.1:g.37001034_37001035delinsAG GRCh37
NC_000005.8:g.37036791_37036792delinsAG NCBI36
NG_006987.1:g.129050_129051delinsAG
NG_006987.2:g.129050_129051delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3574+44_3574+45delinsAG MANE Select ENSP00000282516.8:n.3574+44_3574+45delins...
ENST00000652901.1:c.3574+44_3574+45delinsAG ENSP00000499536.1:n.3574+44_3574+45delins...
ENST00000282516.12:c.3574+44_3574+45delinsAG ENSP00000282516.8:n.3574+44_3574+45delins...
ENST00000448238.2:c.3574+44_3574+45delinsAG ENSP00000406266.2:n.3574+44_3574+45delins...
ENST00000621733.1:c.1-63646_1-63645delinsAG ENSP00000480694.1:n.1-63646_1-63645delins...
NM_015384.4:c.3574+44_3574+45delinsAG NP_056199.2:n.3574+44_3574+45delinsAG
NM_133433.3:c.3574+44_3574+45delinsAG NP_597677.2:n.3574+44_3574+45delinsAG
XM_005248280.2:c.3574+44_3574+45delinsAG XP_005248337.1:n.3574+44_3574+45delinsAG
XM_005248282.3:c.2830+44_2830+45delinsAG XP_005248339.2:n.2830+44_2830+45delinsAG
XM_006714467.2:c.3574+44_3574+45delinsAG XP_006714530.1:n.3574+44_3574+45delinsAG
XM_006714468.1:c.3376+44_3376+45delinsAG XP_006714531.1:n.3376+44_3376+45delinsAG
XM_011514014.1:c.3193+44_3193+45delinsAG XP_011512316.1:n.3193+44_3193+45delinsAG
XM_011514015.1:c.3574+44_3574+45delinsAG XP_011512317.1:n.3574+44_3574+45delinsAG
XM_005248280.3:c.3574+44_3574+45delinsAG XP_005248337.1:n.3574+44_3574+45delinsAG
XM_005248282.5:c.2914+44_2914+45delinsAG XP_005248339.3:n.2914+44_2914+45delinsAG
XM_006714468.2:c.3376+44_3376+45delinsAG XP_006714531.1:n.3376+44_3376+45delinsAG
XM_017009329.1:c.3574+44_3574+45delinsAG XP_016864818.1:n.3574+44_3574+45delinsAG
XM_017009330.2:c.1957+44_1957+45delinsAG XP_016864819.1:n.1957+44_1957+45delinsAG
XM_017009331.1:c.1948+44_1948+45delinsAG XP_016864820.1:n.1948+44_1948+45delinsAG
NM_133433.4:c.3574+44_3574+45delinsAG MANE Select NP_597677.2:n.3574+44_3574+45delinsAG
NM_015384.5:c.3574+44_3574+45delinsAG NP_056199.2:n.3574+44_3574+45delinsAG