Canonical Allele Identifier: CA277071
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 211658
ClinVar RCV Id: RCV000193077
dbSNP Id: rs797045780
MyVariant Identifiers: chr5:g.37049260dupT (hg19) chr5:g.37049158dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37049158dup , CM000667.2:g.37049158dup GRCh38
NC_000005.9:g.37049260dup , CM000667.1:g.37049260dup GRCh37
NC_000005.8:g.37085017dup NCBI36
NG_006987.1:g.177276dup
NG_006987.2:g.177276dup

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6811dup MANE Select ENSP00000282516.8:p.Ser2271PhefsTer6
ENST00000652901.1:c.6811dup ENSP00000499536.1:p.Ser2271PhefsTer6
ENST00000282516.12:c.6811dup ENSP00000282516.8:p.Ser2271PhefsTer6
ENST00000448238.2:c.6811dup ENSP00000406266.2:p.Ser2271PhefsTer6
ENST00000621733.1:c.1-15420dup ENSP00000480694.1:n.1-15420dup
NM_015384.4:c.6811dup NP_056199.2:p.Ser2271PhefsTer6
NM_133433.3:c.6811dup NP_597677.2:p.Ser2271PhefsTer6
XM_005248280.2:c.6811dup XP_005248337.1:p.Ser2271PhefsTer6
XM_005248282.3:c.6067dup XP_005248339.2:p.Ser2023PhefsTer6
XM_006714467.2:c.6811dup XP_006714530.1:p.Ser2271PhefsTer6
XM_006714468.1:c.6613dup XP_006714531.1:p.Ser2205PhefsTer6
XM_011514014.1:c.6430dup XP_011512316.1:p.Ser2144PhefsTer6
XM_011514015.1:c.6811dup XP_011512317.1:p.Ser2271PhefsTer6
XM_005248280.3:c.6811dup XP_005248337.1:p.Ser2271PhefsTer6
XM_005248282.5:c.6151dup XP_005248339.3:p.Ser2051PhefsTer6
XM_006714468.2:c.6613dup XP_006714531.1:p.Ser2205PhefsTer6
XM_017009329.1:c.6811dup XP_016864818.1:p.Ser2271PhefsTer6
XM_017009330.2:c.5194dup XP_016864819.1:p.Ser1732PhefsTer6
XM_017009331.1:c.5185dup XP_016864820.1:p.Ser1729PhefsTer6
NM_133433.4:c.6811dup MANE Select NP_597677.2:p.Ser2271PhefsTer6
NM_015384.5:c.6811dup NP_056199.2:p.Ser2271PhefsTer6
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