Canonical Allele Identifier: CA16042526
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 372888
ClinVar RCV Id: RCV000414589
dbSNP Id: rs1057518050
MyVariant Identifiers: chr5:g.37000580_37000583del (hg19) chr5:g.37000478_37000481del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000478_37000481del , CM000667.2:g.37000478_37000481del GRCh38
NC_000005.9:g.37000580_37000583del , CM000667.1:g.37000580_37000583del GRCh37
NC_000005.8:g.37036337_37036340del NCBI36
NG_006987.1:g.128596_128599del
NG_006987.2:g.128596_128599del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3410_3413del MANE Select ENSP00000282516.8:p.Gly1137GlufsTer?
ENST00000652901.1:c.3410_3413del ENSP00000499536.1:p.Gly1137GlufsTer?
ENST00000282516.12:c.3410_3413del ENSP00000282516.8:p.Gly1137GlufsTer?
ENST00000448238.2:c.3410_3413del ENSP00000406266.2:p.Gly1137GlufsTer?
ENST00000503274.1:n.761_764del
ENST00000621733.1:c.1-64100_1-64097del ENSP00000480694.1:n.1-64100_1-64097del
NM_015384.4:c.3410_3413del NP_056199.2:p.Gly1137GlufsTer?
NM_133433.3:c.3410_3413del NP_597677.2:p.Gly1137GlufsTer?
XM_005248280.2:c.3410_3413del XP_005248337.1:p.Gly1137GlufsTer?
XM_005248282.3:c.2666_2669del XP_005248339.2:p.Gly889GlufsTer?
XM_006714467.2:c.3410_3413del XP_006714530.1:p.Gly1137GlufsTer?
XM_006714468.1:c.3305-339_3305-336del XP_006714531.1:n.3305-339_3305-336del
XM_011514014.1:c.3122-339_3122-336del XP_011512316.1:n.3122-339_3122-336del
XM_011514015.1:c.3410_3413del XP_011512317.1:p.Gly1137GlufsTer?
XM_005248280.3:c.3410_3413del XP_005248337.1:p.Gly1137GlufsTer?
XM_005248282.5:c.2750_2753del XP_005248339.3:p.Gly917GlufsTer?
XM_006714468.2:c.3305-339_3305-336del XP_006714531.1:n.3305-339_3305-336del
XM_017009329.1:c.3410_3413del XP_016864818.1:p.Gly1137GlufsTer?
XM_017009330.2:c.1793_1796del XP_016864819.1:p.Gly598GlufsTer?
XM_017009331.1:c.1784_1787del XP_016864820.1:p.Gly595GlufsTer?
NM_133433.4:c.3410_3413del MANE Select NP_597677.2:p.Gly1137GlufsTer?
NM_015384.5:c.3410_3413del NP_056199.2:p.Gly1137GlufsTer?
Search 100 bp 5'
Search 100 bp 3'