Canonical Allele Identifier: CA658820592
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2141
ClinVar RCV Id: RCV000002223
dbSNP Id: rs1554011042

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36955557del , CM000667.2:g.36955557del GRCh38
NC_000005.9:g.36955659del , CM000667.1:g.36955659del GRCh37
NC_000005.8:g.36991416del NCBI36
NG_006987.1:g.83675del
NG_006987.2:g.83675del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.150del MANE Select ENSP00000282516.8:p.Asn51ThrfsTer27
ENST00000652901.1:c.150del ENSP00000499536.1:p.Asn51ThrfsTer27
ENST00000282516.12:c.150del ENSP00000282516.8:p.Asn51ThrfsTer27
ENST00000448238.2:c.150del ENSP00000406266.2:p.Asn51ThrfsTer27
ENST00000505998.5:n.129del
ENST00000621733.1:c.-1+78535del ENSP00000480694.1:n.-1+78535del
NM_015384.4:c.150del NP_056199.2:p.Asn51ThrfsTer27
NM_133433.3:c.150del NP_597677.2:p.Asn51ThrfsTer27
XM_005248280.2:c.150del XP_005248337.1:p.Asn51ThrfsTer27
XM_006714467.2:c.150del XP_006714530.1:p.Asn51ThrfsTer27
XM_006714468.1:c.150del XP_006714531.1:p.Asn51ThrfsTer27
XM_011514014.1:c.150del XP_011512316.1:p.Asn51ThrfsTer27
XM_011514015.1:c.150del XP_011512317.1:p.Asn51ThrfsTer27
XM_005248280.3:c.150del XP_005248337.1:p.Asn51ThrfsTer27
XM_006714468.2:c.150del XP_006714531.1:p.Asn51ThrfsTer27
XM_017009329.1:c.150del XP_016864818.1:p.Asn51ThrfsTer27
XM_017009331.1:c.150del XP_016864820.1:p.Asn51ThrfsTer27
NM_133433.4:c.150del MANE Select NP_597677.2:p.Asn51ThrfsTer27
NM_015384.5:c.150del NP_056199.2:p.Asn51ThrfsTer27