Canonical Allele Identifier: CA272130
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159131
ClinVar RCV Id: RCV000146624
dbSNP Id: rs587783959
MyVariant Identifiers: chr5:g.37017162_37017163del (hg19) chr5:g.37017060_37017061del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37017060_37017061del , CM000667.2:g.37017060_37017061del GRCh38
NC_000005.9:g.37017162_37017163del , CM000667.1:g.37017162_37017163del GRCh37
NC_000005.8:g.37052919_37052920del NCBI36
NG_006987.1:g.145178_145179del
NG_006987.2:g.145178_145179del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.4818_4819del MANE Select ENSP00000282516.8:p.Arg1606SerfsTer5
ENST00000652901.1:c.4818_4819del ENSP00000499536.1:p.Arg1606SerfsTer5
ENST00000282516.12:c.4818_4819del ENSP00000282516.8:p.Arg1606SerfsTer5
ENST00000448238.2:c.4818_4819del ENSP00000406266.2:p.Arg1606SerfsTer5
ENST00000621733.1:c.1-47518_1-47517del ENSP00000480694.1:n.1-47518_1-47517del
NM_015384.4:c.4818_4819del NP_056199.2:p.Arg1606SerfsTer5
NM_133433.3:c.4818_4819del NP_597677.2:p.Arg1606SerfsTer5
XM_005248280.2:c.4818_4819del XP_005248337.1:p.Arg1606SerfsTer5
XM_005248282.3:c.4074_4075del XP_005248339.2:p.Arg1358SerfsTer5
XM_006714467.2:c.4818_4819del XP_006714530.1:p.Arg1606SerfsTer5
XM_006714468.1:c.4620_4621del XP_006714531.1:p.Arg1540SerfsTer5
XM_011514014.1:c.4437_4438del XP_011512316.1:p.Arg1479SerfsTer5
XM_011514015.1:c.4818_4819del XP_011512317.1:p.Arg1606SerfsTer5
XM_005248280.3:c.4818_4819del XP_005248337.1:p.Arg1606SerfsTer5
XM_005248282.5:c.4158_4159del XP_005248339.3:p.Arg1386SerfsTer5
XM_006714468.2:c.4620_4621del XP_006714531.1:p.Arg1540SerfsTer5
XM_017009329.1:c.4818_4819del XP_016864818.1:p.Arg1606SerfsTer5
XM_017009330.2:c.3201_3202del XP_016864819.1:p.Arg1067SerfsTer5
XM_017009331.1:c.3192_3193del XP_016864820.1:p.Arg1064SerfsTer5
NM_133433.4:c.4818_4819del MANE Select NP_597677.2:p.Arg1606SerfsTer5
NM_015384.5:c.4818_4819del NP_056199.2:p.Arg1606SerfsTer5
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