Canonical Allele Identifier: CA2673553645
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020910_37020911del , CM000667.2:g.37020910_37020911del GRCh38
NC_000005.9:g.37021012_37021013del , CM000667.1:g.37021012_37021013del GRCh37
NC_000005.8:g.37056769_37056770del NCBI36
NG_006987.1:g.149028_149029del
NG_006987.2:g.149028_149029del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.5328+33_5328+34del MANE Select ENSP00000282516.8:n.5328+33_5328+34del
ENST00000652901.1:c.5328+33_5328+34del ENSP00000499536.1:n.5328+33_5328+34del
ENST00000282516.12:c.5328+33_5328+34del ENSP00000282516.8:n.5328+33_5328+34del
ENST00000448238.2:c.5328+33_5328+34del ENSP00000406266.2:n.5328+33_5328+34del
ENST00000621733.1:c.1-43668_1-43667del ENSP00000480694.1:n.1-43668_1-43667del
NM_015384.4:c.5328+33_5328+34del NP_056199.2:n.5328+33_5328+34del
NM_133433.3:c.5328+33_5328+34del NP_597677.2:n.5328+33_5328+34del
XM_005248280.2:c.5328+33_5328+34del XP_005248337.1:n.5328+33_5328+34del
XM_005248282.3:c.4584+33_4584+34del XP_005248339.2:n.4584+33_4584+34del
XM_006714467.2:c.5328+33_5328+34del XP_006714530.1:n.5328+33_5328+34del
XM_006714468.1:c.5130+33_5130+34del XP_006714531.1:n.5130+33_5130+34del
XM_011514014.1:c.4947+33_4947+34del XP_011512316.1:n.4947+33_4947+34del
XM_011514015.1:c.5328+33_5328+34del XP_011512317.1:n.5328+33_5328+34del
XM_005248280.3:c.5328+33_5328+34del XP_005248337.1:n.5328+33_5328+34del
XM_005248282.5:c.4668+33_4668+34del XP_005248339.3:n.4668+33_4668+34del
XM_006714468.2:c.5130+33_5130+34del XP_006714531.1:n.5130+33_5130+34del
XM_017009329.1:c.5328+33_5328+34del XP_016864818.1:n.5328+33_5328+34del
XM_017009330.2:c.3711+33_3711+34del XP_016864819.1:n.3711+33_3711+34del
XM_017009331.1:c.3702+33_3702+34del XP_016864820.1:n.3702+33_3702+34del
NM_133433.4:c.5328+33_5328+34del MANE Select NP_597677.2:n.5328+33_5328+34del
NM_015384.5:c.5328+33_5328+34del NP_056199.2:n.5328+33_5328+34del