Canonical Allele Identifier: CA271988
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159042
ClinVar RCV Id: RCV000146531
dbSNP Id: rs587783893
MyVariant Identifiers: chr5:g.36955710_36955721del (hg19) chr5:g.36955608_36955619del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36955608_36955619del , CM000667.2:g.36955608_36955619del GRCh38
NC_000005.9:g.36955710_36955721del , CM000667.1:g.36955710_36955721del GRCh37
NC_000005.8:g.36991467_36991478del NCBI36
NG_006987.1:g.83726_83737del
NG_006987.2:g.83726_83737del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.201_212del MANE Select ENSP00000282516.8:p.His67_Asn70del
ENST00000652901.1:c.201_212del ENSP00000499536.1:p.His67_Asn70del
ENST00000282516.12:c.201_212del ENSP00000282516.8:p.His67_Asn70del
ENST00000448238.2:c.201_212del ENSP00000406266.2:p.His67_Asn70del
ENST00000505998.5:n.180_191del
ENST00000621733.1:c.-1+78586_-1+78597del ENSP00000480694.1:n.-1+78586_-1+78597del
NM_015384.4:c.201_212del NP_056199.2:p.His67_Asn70del
NM_133433.3:c.201_212del NP_597677.2:p.His67_Asn70del
XM_005248280.2:c.201_212del XP_005248337.1:p.His67_Asn70del
XM_006714467.2:c.201_212del XP_006714530.1:p.His67_Asn70del
XM_006714468.1:c.201_212del XP_006714531.1:p.His67_Asn70del
XM_011514014.1:c.201_212del XP_011512316.1:p.His67_Asn70del
XM_011514015.1:c.201_212del XP_011512317.1:p.His67_Asn70del
XM_005248280.3:c.201_212del XP_005248337.1:p.His67_Asn70del
XM_006714468.2:c.201_212del XP_006714531.1:p.His67_Asn70del
XM_017009329.1:c.201_212del XP_016864818.1:p.His67_Asn70del
XM_017009331.1:c.201_212del XP_016864820.1:p.His67_Asn70del
NM_133433.4:c.201_212del MANE Select NP_597677.2:p.His67_Asn70del
NM_015384.5:c.201_212del NP_056199.2:p.His67_Asn70del
Search 100 bp 5'
Search 100 bp 3'