Canonical Allele Identifier: CA277182
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 211663
ClinVar RCV Id: RCV000193652
dbSNP Id: rs797045785
MyVariant Identifiers: chr5:g.37063943dupG (hg19) chr5:g.37063841dupG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37063841dup , CM000667.2:g.37063841dup GRCh38
NC_000005.9:g.37063943dup , CM000667.1:g.37063943dup GRCh37
NC_000005.8:g.37099700dup NCBI36
NG_006987.1:g.191959dup
NG_006987.2:g.191959dup

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.7912dup MANE Select ENSP00000282516.8:p.Glu2638GlyfsTer5
ENST00000652901.1:c.7765dup ENSP00000499536.1:p.Glu2589GlyfsTer5
ENST00000282516.12:c.7912dup ENSP00000282516.8:p.Glu2638GlyfsTer5
ENST00000448238.2:c.7912dup ENSP00000406266.2:p.Glu2638GlyfsTer5
ENST00000513819.1:c.315dup ENSP00000421504.1:p.Arg106GlufsTer?
ENST00000514335.1:n.1794dup
ENST00000621733.1:c.1-737dup ENSP00000480694.1:n.1-737dup
NM_015384.4:c.7912dup NP_056199.2:p.Glu2638GlyfsTer5
NM_133433.3:c.7912dup NP_597677.2:p.Glu2638GlyfsTer5
XM_005248280.2:c.7912dup XP_005248337.1:p.Glu2638GlyfsTer5
XM_005248282.3:c.7168dup XP_005248339.2:p.Glu2390GlyfsTer5
XM_006714467.2:c.7765dup XP_006714530.1:p.Glu2589GlyfsTer5
XM_006714468.1:c.7714dup XP_006714531.1:p.Glu2572GlyfsTer5
XM_011514014.1:c.7531dup XP_011512316.1:p.Glu2511GlyfsTer5
XM_005248280.3:c.7912dup XP_005248337.1:p.Glu2638GlyfsTer5
XM_005248282.5:c.7252dup XP_005248339.3:p.Glu2418GlyfsTer5
XM_006714468.2:c.7714dup XP_006714531.1:p.Glu2572GlyfsTer5
XM_017009329.1:c.7765dup XP_016864818.1:p.Glu2589GlyfsTer5
XM_017009330.2:c.6295dup XP_016864819.1:p.Glu2099GlyfsTer5
XM_017009331.1:c.6286dup XP_016864820.1:p.Glu2096GlyfsTer5
NM_133433.4:c.7912dup MANE Select NP_597677.2:p.Glu2638GlyfsTer5
NM_015384.5:c.7912dup NP_056199.2:p.Glu2638GlyfsTer5
Search 100 bp 5'
Search 100 bp 3'