Canonical Allele Identifier: CA2673574894
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000958_37000959insAGCTGAA , CM000667.2:g.37000958_37000959insAGCTGAA GRCh38
NC_000005.9:g.37001060_37001061insAGCTGAA , CM000667.1:g.37001060_37001061insAGCTGAA GRCh37
NC_000005.8:g.37036817_37036818insAGCTGAA NCBI36
NG_006987.1:g.129076_129077insAGCTGAA
NG_006987.2:g.129076_129077insAGCTGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3575-31_3575-30insAGCTGAA MANE Select ENSP00000282516.8:n.3575-31_3575-30insAGC...
ENST00000652901.1:c.3575-31_3575-30insAGCTGAA ENSP00000499536.1:n.3575-31_3575-30insAGC...
ENST00000282516.12:c.3575-31_3575-30insAGCTGAA ENSP00000282516.8:n.3575-31_3575-30insAGC...
ENST00000448238.2:c.3575-31_3575-30insAGCTGAA ENSP00000406266.2:n.3575-31_3575-30insAGC...
ENST00000621733.1:c.1-63620_1-63619insAGCTGAA ENSP00000480694.1:n.1-63620_1-63619insAGC...
NM_015384.4:c.3575-31_3575-30insAGCTGAA NP_056199.2:n.3575-31_3575-30insAGCTGAA
NM_133433.3:c.3575-31_3575-30insAGCTGAA NP_597677.2:n.3575-31_3575-30insAGCTGAA
XM_005248280.2:c.3575-31_3575-30insAGCTGAA XP_005248337.1:n.3575-31_3575-30insAGCTGA...
XM_005248282.3:c.2831-31_2831-30insAGCTGAA XP_005248339.2:n.2831-31_2831-30insAGCTGA...
XM_006714467.2:c.3575-31_3575-30insAGCTGAA XP_006714530.1:n.3575-31_3575-30insAGCTGA...
XM_006714468.1:c.3377-31_3377-30insAGCTGAA XP_006714531.1:n.3377-31_3377-30insAGCTGA...
XM_011514014.1:c.3194-31_3194-30insAGCTGAA XP_011512316.1:n.3194-31_3194-30insAGCTGA...
XM_011514015.1:c.3575-31_3575-30insAGCTGAA XP_011512317.1:n.3575-31_3575-30insAGCTGA...
XM_005248280.3:c.3575-31_3575-30insAGCTGAA XP_005248337.1:n.3575-31_3575-30insAGCTGA...
XM_005248282.5:c.2915-31_2915-30insAGCTGAA XP_005248339.3:n.2915-31_2915-30insAGCTGA...
XM_006714468.2:c.3377-31_3377-30insAGCTGAA XP_006714531.1:n.3377-31_3377-30insAGCTGA...
XM_017009329.1:c.3575-31_3575-30insAGCTGAA XP_016864818.1:n.3575-31_3575-30insAGCTGA...
XM_017009330.2:c.1958-31_1958-30insAGCTGAA XP_016864819.1:n.1958-31_1958-30insAGCTGA...
XM_017009331.1:c.1949-31_1949-30insAGCTGAA XP_016864820.1:n.1949-31_1949-30insAGCTGA...
NM_133433.4:c.3575-31_3575-30insAGCTGAA MANE Select NP_597677.2:n.3575-31_3575-30insAGCTGAA
NM_015384.5:c.3575-31_3575-30insAGCTGAA NP_056199.2:n.3575-31_3575-30insAGCTGAA