Canonical Allele Identifier: CA1539618412
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1752866626

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045370_37045373del , CM000667.2:g.37045370_37045373del GRCh38
NC_000005.9:g.37045472_37045475del , CM000667.1:g.37045472_37045475del GRCh37
NC_000005.8:g.37081229_37081232del NCBI36
NG_006987.1:g.173488_173491del
NG_006987.2:g.173488_173491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.6344-73_6344-70del MANE Select ENSP00000282516.8:n.6344-73_6344-70del
ENST00000652901.1:c.6344-73_6344-70del ENSP00000499536.1:n.6344-73_6344-70del
ENST00000282516.12:c.6344-73_6344-70del ENSP00000282516.8:n.6344-73_6344-70del
ENST00000448238.2:c.6344-73_6344-70del ENSP00000406266.2:n.6344-73_6344-70del
ENST00000621733.1:c.1-19208_1-19205del ENSP00000480694.1:n.1-19208_1-19205del
NM_015384.4:c.6344-73_6344-70del NP_056199.2:n.6344-73_6344-70del
NM_133433.3:c.6344-73_6344-70del NP_597677.2:n.6344-73_6344-70del
XM_005248280.2:c.6344-73_6344-70del XP_005248337.1:n.6344-73_6344-70del
XM_005248282.3:c.5600-73_5600-70del XP_005248339.2:n.5600-73_5600-70del
XM_006714467.2:c.6344-73_6344-70del XP_006714530.1:n.6344-73_6344-70del
XM_006714468.1:c.6146-73_6146-70del XP_006714531.1:n.6146-73_6146-70del
XM_011514014.1:c.5963-73_5963-70del XP_011512316.1:n.5963-73_5963-70del
XM_011514015.1:c.6344-73_6344-70del XP_011512317.1:n.6344-73_6344-70del
XM_005248280.3:c.6344-73_6344-70del XP_005248337.1:n.6344-73_6344-70del
XM_005248282.5:c.5684-73_5684-70del XP_005248339.3:n.5684-73_5684-70del
XM_006714468.2:c.6146-73_6146-70del XP_006714531.1:n.6146-73_6146-70del
XM_017009329.1:c.6344-73_6344-70del XP_016864818.1:n.6344-73_6344-70del
XM_017009330.2:c.4727-73_4727-70del XP_016864819.1:n.4727-73_4727-70del
XM_017009331.1:c.4718-73_4718-70del XP_016864820.1:n.4718-73_4718-70del
NM_133433.4:c.6344-73_6344-70del MANE Select NP_597677.2:n.6344-73_6344-70del
NM_015384.5:c.6344-73_6344-70del NP_056199.2:n.6344-73_6344-70del