Canonical Allele Identifier: CA277281
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 211661
ClinVar RCV Id: RCV000194236
dbSNP Id: rs797045783
MyVariant Identifiers: chr5:g.37061076dupA (hg19) chr5:g.37060974dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37060974dup , CM000667.2:g.37060974dup GRCh38
NC_000005.9:g.37061076dup , CM000667.1:g.37061076dup GRCh37
NC_000005.8:g.37096833dup NCBI36
NG_006987.1:g.189092dup
NG_006987.2:g.189092dup

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.7816dup MANE Select ENSP00000282516.8:p.Ile2606AsnfsTer26
ENST00000652901.1:c.7669dup ENSP00000499536.1:p.Ile2557AsnfsTer26
ENST00000282516.12:c.7816dup ENSP00000282516.8:p.Ile2606AsnfsTer26
ENST00000448238.2:c.7816dup ENSP00000406266.2:p.Ile2606AsnfsTer26
ENST00000513819.1:c.263+1809dup ENSP00000421504.1:n.263+1809dup
ENST00000514335.1:n.1698dup
ENST00000621733.1:c.1-3604dup ENSP00000480694.1:n.1-3604dup
NM_015384.4:c.7816dup NP_056199.2:p.Ile2606AsnfsTer26
NM_133433.3:c.7816dup NP_597677.2:p.Ile2606AsnfsTer26
XM_005248280.2:c.7816dup XP_005248337.1:p.Ile2606AsnfsTer26
XM_005248282.3:c.7072dup XP_005248339.2:p.Ile2358AsnfsTer26
XM_006714467.2:c.7669dup XP_006714530.1:p.Ile2557AsnfsTer26
XM_006714468.1:c.7618dup XP_006714531.1:p.Ile2540AsnfsTer26
XM_011514014.1:c.7435dup XP_011512316.1:p.Ile2479AsnfsTer26
XM_005248280.3:c.7816dup XP_005248337.1:p.Ile2606AsnfsTer26
XM_005248282.5:c.7156dup XP_005248339.3:p.Ile2386AsnfsTer26
XM_006714468.2:c.7618dup XP_006714531.1:p.Ile2540AsnfsTer26
XM_017009329.1:c.7669dup XP_016864818.1:p.Ile2557AsnfsTer26
XM_017009330.2:c.6199dup XP_016864819.1:p.Ile2067AsnfsTer26
XM_017009331.1:c.6190dup XP_016864820.1:p.Ile2064AsnfsTer26
NM_133433.4:c.7816dup MANE Select NP_597677.2:p.Ile2606AsnfsTer26
NM_015384.5:c.7816dup NP_056199.2:p.Ile2606AsnfsTer26
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