Canonical Allele Identifier: CA272122
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159124
ClinVar RCV Id: RCV000146617
dbSNP Id: rs587783955
MyVariant Identifiers: chr5:g.37016159del (hg19) chr5:g.37016057del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37016057del , CM000667.2:g.37016057del GRCh38
NC_000005.9:g.37016159del , CM000667.1:g.37016159del GRCh37
NC_000005.8:g.37051916del NCBI36
NG_006987.1:g.144175del
NG_006987.2:g.144175del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.4663del MANE Select ENSP00000282516.8:p.Glu1555LysfsTer?
ENST00000652901.1:c.4663del ENSP00000499536.1:p.Glu1555LysfsTer?
ENST00000282516.12:c.4663del ENSP00000282516.8:p.Glu1555LysfsTer?
ENST00000448238.2:c.4663del ENSP00000406266.2:p.Glu1555LysfsTer?
ENST00000621733.1:c.1-48521del ENSP00000480694.1:n.1-48521del
NM_015384.4:c.4663del NP_056199.2:p.Glu1555LysfsTer?
NM_133433.3:c.4663del NP_597677.2:p.Glu1555LysfsTer?
XM_005248280.2:c.4663del XP_005248337.1:p.Glu1555LysfsTer?
XM_005248282.3:c.3919del XP_005248339.2:p.Glu1307LysfsTer?
XM_006714467.2:c.4663del XP_006714530.1:p.Glu1555LysfsTer?
XM_006714468.1:c.4465del XP_006714531.1:p.Glu1489LysfsTer?
XM_011514014.1:c.4282del XP_011512316.1:p.Glu1428LysfsTer?
XM_011514015.1:c.4663del XP_011512317.1:p.Glu1555LysfsTer?
XM_005248280.3:c.4663del XP_005248337.1:p.Glu1555LysfsTer?
XM_005248282.5:c.4003del XP_005248339.3:p.Glu1335LysfsTer?
XM_006714468.2:c.4465del XP_006714531.1:p.Glu1489LysfsTer?
XM_017009329.1:c.4663del XP_016864818.1:p.Glu1555LysfsTer?
XM_017009330.2:c.3046del XP_016864819.1:p.Glu1016LysfsTer?
XM_017009331.1:c.3037del XP_016864820.1:p.Glu1013LysfsTer?
NM_133433.4:c.4663del MANE Select NP_597677.2:p.Glu1555LysfsTer?
NM_015384.5:c.4663del NP_056199.2:p.Glu1555LysfsTer?
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