Canonical Allele Identifier: CA272317
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159234
ClinVar RCV Id: RCV000146729
dbSNP Id: rs587784047
MyVariant Identifiers: chr5:g.37060961_37060985del (hg19) chr5:g.37060859_37060883del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37060859_37060883del , CM000667.2:g.37060859_37060883del GRCh38
NC_000005.9:g.37060961_37060985del , CM000667.1:g.37060961_37060985del GRCh37
NC_000005.8:g.37096718_37096742del NCBI36
NG_006987.1:g.188977_189001del
NG_006987.2:g.188977_189001del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.7701_7725del MANE Select ENSP00000282516.8:p.Ser2568MetfsTer5
ENST00000652901.1:c.7554_7578del ENSP00000499536.1:p.Ser2519MetfsTer5
ENST00000282516.12:c.7701_7725del ENSP00000282516.8:p.Ser2568MetfsTer5
ENST00000448238.2:c.7701_7725del ENSP00000406266.2:p.Ser2568MetfsTer5
ENST00000513819.1:c.263+1694_263+1718del ENSP00000421504.1:n.263+1694_263+1718del
ENST00000514335.1:n.1583_1607del
ENST00000621733.1:c.1-3719_1-3695del ENSP00000480694.1:n.1-3719_1-3695del
NM_015384.4:c.7701_7725del NP_056199.2:p.Ser2568MetfsTer5
NM_133433.3:c.7701_7725del NP_597677.2:p.Ser2568MetfsTer5
XM_005248280.2:c.7701_7725del XP_005248337.1:p.Ser2568MetfsTer5
XM_005248282.3:c.6957_6981del XP_005248339.2:p.Ser2320MetfsTer5
XM_006714467.2:c.7554_7578del XP_006714530.1:p.Ser2519MetfsTer5
XM_006714468.1:c.7503_7527del XP_006714531.1:p.Ser2502MetfsTer5
XM_011514014.1:c.7320_7344del XP_011512316.1:p.Ser2441MetfsTer5
XM_011514015.1:c.*13_*37del XP_011512317.1:n.*13_*37del
XM_005248280.3:c.7701_7725del XP_005248337.1:p.Ser2568MetfsTer5
XM_005248282.5:c.7041_7065del XP_005248339.3:p.Ser2348MetfsTer5
XM_006714468.2:c.7503_7527del XP_006714531.1:p.Ser2502MetfsTer5
XM_017009329.1:c.7554_7578del XP_016864818.1:p.Ser2519MetfsTer5
XM_017009330.2:c.6084_6108del XP_016864819.1:p.Ser2029MetfsTer5
XM_017009331.1:c.6075_6099del XP_016864820.1:p.Ser2026MetfsTer5
NM_133433.4:c.7701_7725del MANE Select NP_597677.2:p.Ser2568MetfsTer5
NM_015384.5:c.7701_7725del NP_056199.2:p.Ser2568MetfsTer5
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