Canonical Allele Identifier: CA277214
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 211648
ClinVar RCV Id: RCV000193856
dbSNP Id: rs797045772
MyVariant Identifiers: chr5:g.37024791dupT (hg19) chr5:g.37024689dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37024689dup , CM000667.2:g.37024689dup GRCh38
NC_000005.9:g.37024791dup , CM000667.1:g.37024791dup GRCh37
NC_000005.8:g.37060548dup NCBI36
NG_006987.1:g.152807dup
NG_006987.2:g.152807dup

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5679dup MANE Select ENSP00000282516.8:p.Arg1894SerfsTer5
ENST00000652901.1:c.5679dup ENSP00000499536.1:p.Arg1894SerfsTer5
ENST00000282516.12:c.5679dup ENSP00000282516.8:p.Arg1894SerfsTer5
ENST00000448238.2:c.5679dup ENSP00000406266.2:p.Arg1894SerfsTer5
ENST00000621733.1:c.1-39889dup ENSP00000480694.1:n.1-39889dup
NM_015384.4:c.5679dup NP_056199.2:p.Arg1894SerfsTer5
NM_133433.3:c.5679dup NP_597677.2:p.Arg1894SerfsTer5
XM_005248280.2:c.5679dup XP_005248337.1:p.Arg1894SerfsTer5
XM_005248282.3:c.4935dup XP_005248339.2:p.Arg1646SerfsTer5
XM_006714467.2:c.5679dup XP_006714530.1:p.Arg1894SerfsTer5
XM_006714468.1:c.5481dup XP_006714531.1:p.Arg1828SerfsTer5
XM_011514014.1:c.5298dup XP_011512316.1:p.Arg1767SerfsTer5
XM_011514015.1:c.5679dup XP_011512317.1:p.Arg1894SerfsTer5
XM_005248280.3:c.5679dup XP_005248337.1:p.Arg1894SerfsTer5
XM_005248282.5:c.5019dup XP_005248339.3:p.Arg1674SerfsTer5
XM_006714468.2:c.5481dup XP_006714531.1:p.Arg1828SerfsTer5
XM_017009329.1:c.5679dup XP_016864818.1:p.Arg1894SerfsTer5
XM_017009330.2:c.4062dup XP_016864819.1:p.Arg1355SerfsTer5
XM_017009331.1:c.4053dup XP_016864820.1:p.Arg1352SerfsTer5
NM_133433.4:c.5679dup MANE Select NP_597677.2:p.Arg1894SerfsTer5
NM_015384.5:c.5679dup NP_056199.2:p.Arg1894SerfsTer5
Search 100 bp 5'
Search 100 bp 3'