Canonical Allele Identifier: CA277252
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 211632
ClinVar RCV Id: RCV000194051
dbSNP Id: rs797045756

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995764del , CM000667.2:g.36995764del GRCh38
NC_000005.9:g.36995866del , CM000667.1:g.36995866del GRCh37
NC_000005.8:g.37031623del NCBI36
NG_006987.1:g.123882del
NG_006987.2:g.123882del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3264del MANE Select ENSP00000282516.8:p.Ser1089ValfsTer?
ENST00000652901.1:c.3264del ENSP00000499536.1:p.Ser1089ValfsTer?
ENST00000282516.12:c.3264del ENSP00000282516.8:p.Ser1089ValfsTer?
ENST00000448238.2:c.3264del ENSP00000406266.2:p.Ser1089ValfsTer?
ENST00000503274.1:n.615del
ENST00000504430.5:n.2884del
ENST00000509429.1:n.15del
ENST00000621733.1:c.1-68814del ENSP00000480694.1:n.1-68814del
NM_015384.4:c.3264del NP_056199.2:p.Ser1089ValfsTer?
NM_133433.3:c.3264del NP_597677.2:p.Ser1089ValfsTer?
XM_005248280.2:c.3264del XP_005248337.1:p.Ser1089ValfsTer?
XM_005248282.3:c.2520del XP_005248339.2:p.Ser841ValfsTer?
XM_006714467.2:c.3264del XP_006714530.1:p.Ser1089ValfsTer?
XM_006714468.1:c.3264del XP_006714531.1:p.Ser1089ValfsTer18
XM_011514014.1:c.3122-5053del XP_011512316.1:n.3122-5053del
XM_011514015.1:c.3264del XP_011512317.1:p.Ser1089ValfsTer?
XM_005248280.3:c.3264del XP_005248337.1:p.Ser1089ValfsTer?
XM_005248282.5:c.2604del XP_005248339.3:p.Ser869ValfsTer?
XM_006714468.2:c.3264del XP_006714531.1:p.Ser1089ValfsTer18
XM_017009329.1:c.3264del XP_016864818.1:p.Ser1089ValfsTer?
XM_017009330.2:c.1647del XP_016864819.1:p.Ser550ValfsTer?
XM_017009331.1:c.1638del XP_016864820.1:p.Ser547ValfsTer?
NM_133433.4:c.3264del MANE Select NP_597677.2:p.Ser1089ValfsTer?
NM_015384.5:c.3264del NP_056199.2:p.Ser1089ValfsTer?