Canonical Allele Identifier: CA272174
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159164
ClinVar RCV Id: RCV000146658
dbSNP Id: rs587783987
MyVariant Identifiers: chr5:g.37036542_37036544del (hg19) chr5:g.37036440_37036442del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37036440_37036442del , CM000667.2:g.37036440_37036442del GRCh38
NC_000005.9:g.37036542_37036544del , CM000667.1:g.37036542_37036544del GRCh37
NC_000005.8:g.37072299_37072301del NCBI36
NG_006987.1:g.164558_164560del
NG_006987.2:g.164558_164560del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5924_5926del MANE Select ENSP00000282516.8:p.Val1975del
ENST00000652901.1:c.5924_5926del ENSP00000499536.1:p.Val1975del
ENST00000282516.12:c.5924_5926del ENSP00000282516.8:p.Val1975del
ENST00000448238.2:c.5924_5926del ENSP00000406266.2:p.Val1975del
ENST00000621733.1:c.1-28138_1-28136del ENSP00000480694.1:n.1-28138_1-28136del
NM_015384.4:c.5924_5926del NP_056199.2:p.Val1975del
NM_133433.3:c.5924_5926del NP_597677.2:p.Val1975del
XM_005248280.2:c.5924_5926del XP_005248337.1:p.Val1975del
XM_005248282.3:c.5180_5182del XP_005248339.2:p.Val1727del
XM_006714467.2:c.5924_5926del XP_006714530.1:p.Val1975del
XM_006714468.1:c.5726_5728del XP_006714531.1:p.Val1909del
XM_011514014.1:c.5543_5545del XP_011512316.1:p.Val1848del
XM_011514015.1:c.5924_5926del XP_011512317.1:p.Val1975del
XM_005248280.3:c.5924_5926del XP_005248337.1:p.Val1975del
XM_005248282.5:c.5264_5266del XP_005248339.3:p.Val1755del
XM_006714468.2:c.5726_5728del XP_006714531.1:p.Val1909del
XM_017009329.1:c.5924_5926del XP_016864818.1:p.Val1975del
XM_017009330.2:c.4307_4309del XP_016864819.1:p.Val1436del
XM_017009331.1:c.4298_4300del XP_016864820.1:p.Val1433del
NM_133433.4:c.5924_5926del MANE Select NP_597677.2:p.Val1975del
NM_015384.5:c.5924_5926del NP_056199.2:p.Val1975del
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