Canonical Allele Identifier: CA2534951874
Gene: NIPBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045589_37045590insCCT , CM000667.2:g.37045589_37045590insCCT GRCh38
NC_000005.9:g.37045691_37045692insCCT , CM000667.1:g.37045691_37045692insCCT GRCh37
NC_000005.8:g.37081448_37081449insCCT NCBI36
NG_006987.1:g.173707_173708insCCT
NG_006987.2:g.173707_173708insCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6490_6491insCCT MANE Select ENSP00000282516.8:p.Asn2164delinsThrTyr
ENST00000652901.1:c.6490_6491insCCT ENSP00000499536.1:p.Asn2164delinsThrTyr
ENST00000282516.12:c.6490_6491insCCT ENSP00000282516.8:p.Asn2164delinsThrTyr
ENST00000448238.2:c.6490_6491insCCT ENSP00000406266.2:p.Asn2164delinsThrTyr
ENST00000621733.1:c.1-18989_1-18988insCCT ENSP00000480694.1:n.1-18989_1-18988insCCT...
NM_015384.4:c.6490_6491insCCT NP_056199.2:p.Asn2164delinsThrTyr
NM_133433.3:c.6490_6491insCCT NP_597677.2:p.Asn2164delinsThrTyr
XM_005248280.2:c.6490_6491insCCT XP_005248337.1:p.Asn2164delinsThrTyr
XM_005248282.3:c.5746_5747insCCT XP_005248339.2:p.Asn1916delinsThrTyr
XM_006714467.2:c.6490_6491insCCT XP_006714530.1:p.Asn2164delinsThrTyr
XM_006714468.1:c.6292_6293insCCT XP_006714531.1:p.Asn2098delinsThrTyr
XM_011514014.1:c.6109_6110insCCT XP_011512316.1:p.Asn2037delinsThrTyr
XM_011514015.1:c.6490_6491insCCT XP_011512317.1:p.Asn2164delinsThrTyr
XM_005248280.3:c.6490_6491insCCT XP_005248337.1:p.Asn2164delinsThrTyr
XM_005248282.5:c.5830_5831insCCT XP_005248339.3:p.Asn1944delinsThrTyr
XM_006714468.2:c.6292_6293insCCT XP_006714531.1:p.Asn2098delinsThrTyr
XM_017009329.1:c.6490_6491insCCT XP_016864818.1:p.Asn2164delinsThrTyr
XM_017009330.2:c.4873_4874insCCT XP_016864819.1:p.Asn1625delinsThrTyr
XM_017009331.1:c.4864_4865insCCT XP_016864820.1:p.Asn1622delinsThrTyr
NM_133433.4:c.6490_6491insCCT MANE Select NP_597677.2:p.Asn2164delinsThrTyr
NM_015384.5:c.6490_6491insCCT NP_056199.2:p.Asn2164delinsThrTyr
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