Canonical Allele Identifier: CA224023
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 96336
ClinVar RCV Id: RCV000082485 RCV000146547
dbSNP Id: rs398124465
MyVariant Identifiers: chr5:g.36985761_36985762del (hg19) chr5:g.36985761_36985762delAG (hg19) chr5:g.36985659_36985660del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985659_36985660del , CM000667.2:g.36985659_36985660del GRCh38
NC_000005.9:g.36985761_36985762del , CM000667.1:g.36985761_36985762del GRCh37
NC_000005.8:g.37021518_37021519del NCBI36
NG_006987.1:g.113777_113778del
NG_006987.2:g.113777_113778del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2479_2480del MANE Select ENSP00000282516.8:p.Arg827GlyfsTer2
ENST00000652901.1:c.2479_2480del ENSP00000499536.1:p.Arg827GlyfsTer2
ENST00000282516.12:c.2479_2480del ENSP00000282516.8:p.Arg827GlyfsTer2
ENST00000448238.2:c.2479_2480del ENSP00000406266.2:p.Arg827GlyfsTer2
ENST00000504430.5:n.2099_2100del
ENST00000621733.1:c.1-78919_1-78918del ENSP00000480694.1:n.1-78919_1-78918del
NM_015384.4:c.2479_2480del NP_056199.2:p.Arg827GlyfsTer2
NM_133433.3:c.2479_2480del NP_597677.2:p.Arg827GlyfsTer2
XM_005248280.2:c.2479_2480del XP_005248337.1:p.Arg827GlyfsTer2
XM_005248282.3:c.1735_1736del XP_005248339.2:p.Arg579GlyfsTer2
XM_006714467.2:c.2479_2480del XP_006714530.1:p.Arg827GlyfsTer2
XM_006714468.1:c.2479_2480del XP_006714531.1:p.Arg827GlyfsTer2
XM_011514014.1:c.2479_2480del XP_011512316.1:p.Arg827GlyfsTer2
XM_011514015.1:c.2479_2480del XP_011512317.1:p.Arg827GlyfsTer2
XM_005248280.3:c.2479_2480del XP_005248337.1:p.Arg827GlyfsTer2
XM_005248282.5:c.1819_1820del XP_005248339.3:p.Arg607GlyfsTer2
XM_006714468.2:c.2479_2480del XP_006714531.1:p.Arg827GlyfsTer2
XM_017009329.1:c.2479_2480del XP_016864818.1:p.Arg827GlyfsTer2
XM_017009330.2:c.862_863del XP_016864819.1:p.Arg288GlyfsTer2
XM_017009331.1:c.1495+9257_1495+9258del XP_016864820.1:n.1495+9257_1495+9258del
NM_133433.4:c.2479_2480del MANE Select NP_597677.2:p.Arg827GlyfsTer2
NM_015384.5:c.2479_2480del NP_056199.2:p.Arg827GlyfsTer2
Search 100 bp 5'
Search 100 bp 3'