Canonical Allele Identifier: CA271960
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159028
ClinVar RCV Id: RCV000146513
dbSNP Id: rs587783880
MyVariant Identifiers: chr5:g.36976095_36976096del (hg19) chr5:g.36975993_36975994del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36975993_36975994del , CM000667.2:g.36975993_36975994del GRCh38
NC_000005.9:g.36976095_36976096del , CM000667.1:g.36976095_36976096del GRCh37
NC_000005.8:g.37011852_37011853del NCBI36
NG_006987.1:g.104111_104112del
NG_006987.2:g.104111_104112del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.1086_1087del MANE Select ENSP00000282516.8:p.Arg364CysfsTer19
ENST00000652901.1:c.1086_1087del ENSP00000499536.1:p.Arg364CysfsTer19
ENST00000282516.12:c.1086_1087del ENSP00000282516.8:p.Arg364CysfsTer19
ENST00000448238.2:c.1086_1087del ENSP00000406266.2:p.Arg364CysfsTer19
ENST00000504430.5:n.706_707del
ENST00000621733.1:c.1-88585_1-88584del ENSP00000480694.1:n.1-88585_1-88584del
NM_015384.4:c.1086_1087del NP_056199.2:p.Arg364CysfsTer19
NM_133433.3:c.1086_1087del NP_597677.2:p.Arg364CysfsTer19
XM_005248280.2:c.1086_1087del XP_005248337.1:p.Arg364CysfsTer19
XM_005248282.3:c.342_343del XP_005248339.2:p.Arg116CysfsTer19
XM_006714467.2:c.1086_1087del XP_006714530.1:p.Arg364CysfsTer19
XM_006714468.1:c.1086_1087del XP_006714531.1:p.Arg364CysfsTer19
XM_011514014.1:c.1086_1087del XP_011512316.1:p.Arg364CysfsTer19
XM_011514015.1:c.1086_1087del XP_011512317.1:p.Arg364CysfsTer19
XM_005248280.3:c.1086_1087del XP_005248337.1:p.Arg364CysfsTer19
XM_005248282.5:c.426_427del XP_005248339.3:p.Arg144CysfsTer19
XM_006714468.2:c.1086_1087del XP_006714531.1:p.Arg364CysfsTer19
XM_017009329.1:c.1086_1087del XP_016864818.1:p.Arg364CysfsTer19
XM_017009331.1:c.1086_1087del XP_016864820.1:p.Arg364CysfsTer19
NM_133433.4:c.1086_1087del MANE Select NP_597677.2:p.Arg364CysfsTer19
NM_015384.5:c.1086_1087del NP_056199.2:p.Arg364CysfsTer19
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