Canonical Allele Identifier: CA16618201
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 423537
ClinVar RCV Id: RCV000478771
dbSNP Id: rs1064796481

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985495del , CM000667.2:g.36985495del GRCh38
NC_000005.9:g.36985597del , CM000667.1:g.36985597del GRCh37
NC_000005.8:g.37021354del NCBI36
NG_006987.1:g.113613del
NG_006987.2:g.113613del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2315del MANE Select ENSP00000282516.8:p.Ser772LeufsTer22
ENST00000652901.1:c.2315del ENSP00000499536.1:p.Ser772LeufsTer22
ENST00000282516.12:c.2315del ENSP00000282516.8:p.Ser772LeufsTer22
ENST00000448238.2:c.2315del ENSP00000406266.2:p.Ser772LeufsTer22
ENST00000504430.5:n.1935del
ENST00000621733.1:c.1-79083del ENSP00000480694.1:n.1-79083del
NM_015384.4:c.2315del NP_056199.2:p.Ser772LeufsTer22
NM_133433.3:c.2315del NP_597677.2:p.Ser772LeufsTer22
XM_005248280.2:c.2315del XP_005248337.1:p.Ser772LeufsTer22
XM_005248282.3:c.1571del XP_005248339.2:p.Ser524LeufsTer22
XM_006714467.2:c.2315del XP_006714530.1:p.Ser772LeufsTer22
XM_006714468.1:c.2315del XP_006714531.1:p.Ser772LeufsTer22
XM_011514014.1:c.2315del XP_011512316.1:p.Ser772LeufsTer22
XM_011514015.1:c.2315del XP_011512317.1:p.Ser772LeufsTer22
XM_005248280.3:c.2315del XP_005248337.1:p.Ser772LeufsTer22
XM_005248282.5:c.1655del XP_005248339.3:p.Ser552LeufsTer22
XM_006714468.2:c.2315del XP_006714531.1:p.Ser772LeufsTer22
XM_017009329.1:c.2315del XP_016864818.1:p.Ser772LeufsTer22
XM_017009330.2:c.698del XP_016864819.1:p.Ser233LeufsTer22
XM_017009331.1:c.1495+9093del XP_016864820.1:n.1495+9093del
NM_133433.4:c.2315del MANE Select NP_597677.2:p.Ser772LeufsTer22
NM_015384.5:c.2315del NP_056199.2:p.Ser772LeufsTer22