Canonical Allele Identifier: CA271991
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159043
ClinVar RCV Id: RCV000146532
dbSNP Id: rs587783894
MyVariant Identifiers: chr5:g.36985328del (hg19) chr5:g.36985226del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985226del , CM000667.2:g.36985226del GRCh38
NC_000005.9:g.36985328del , CM000667.1:g.36985328del GRCh37
NC_000005.8:g.37021085del NCBI36
NG_006987.1:g.113344del
NG_006987.2:g.113344del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2046del MANE Select ENSP00000282516.8:p.Lys682AsnfsTer?
ENST00000652901.1:c.2046del ENSP00000499536.1:p.Lys682AsnfsTer?
ENST00000282516.12:c.2046del ENSP00000282516.8:p.Lys682AsnfsTer?
ENST00000448238.2:c.2046del ENSP00000406266.2:p.Lys682AsnfsTer?
ENST00000504430.5:n.1666del
ENST00000621733.1:c.1-79352del ENSP00000480694.1:n.1-79352del
NM_015384.4:c.2046del NP_056199.2:p.Lys682AsnfsTer?
NM_133433.3:c.2046del NP_597677.2:p.Lys682AsnfsTer?
XM_005248280.2:c.2046del XP_005248337.1:p.Lys682AsnfsTer?
XM_005248282.3:c.1302del XP_005248339.2:p.Lys434AsnfsTer?
XM_006714467.2:c.2046del XP_006714530.1:p.Lys682AsnfsTer?
XM_006714468.1:c.2046del XP_006714531.1:p.Lys682AsnfsTer?
XM_011514014.1:c.2046del XP_011512316.1:p.Lys682AsnfsTer?
XM_011514015.1:c.2046del XP_011512317.1:p.Lys682AsnfsTer?
XM_005248280.3:c.2046del XP_005248337.1:p.Lys682AsnfsTer?
XM_005248282.5:c.1386del XP_005248339.3:p.Lys462AsnfsTer?
XM_006714468.2:c.2046del XP_006714531.1:p.Lys682AsnfsTer?
XM_017009329.1:c.2046del XP_016864818.1:p.Lys682AsnfsTer?
XM_017009330.2:c.429del XP_016864819.1:p.Lys143AsnfsTer?
XM_017009331.1:c.1495+8824del XP_016864820.1:n.1495+8824del
NM_133433.4:c.2046del MANE Select NP_597677.2:p.Lys682AsnfsTer?
NM_015384.5:c.2046del NP_056199.2:p.Lys682AsnfsTer?
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