Canonical Allele Identifier: CA277363
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 211649
ClinVar RCV Id: RCV000194706
dbSNP Id: rs797045773
MyVariant Identifiers: chr5:g.37026360_37026361del (hg19) chr5:g.37026258_37026259del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37026258_37026259del , CM000667.2:g.37026258_37026259del GRCh38
NC_000005.9:g.37026360_37026361del , CM000667.1:g.37026360_37026361del GRCh37
NC_000005.8:g.37062117_37062118del NCBI36
NG_006987.1:g.154376_154377del
NG_006987.2:g.154376_154377del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5739_5740del MANE Select ENSP00000282516.8:p.Trp1914ValfsTer8
ENST00000652901.1:c.5739_5740del ENSP00000499536.1:p.Trp1914ValfsTer8
ENST00000282516.12:c.5739_5740del ENSP00000282516.8:p.Trp1914ValfsTer8
ENST00000448238.2:c.5739_5740del ENSP00000406266.2:p.Trp1914ValfsTer8
ENST00000621733.1:c.1-38320_1-38319del ENSP00000480694.1:n.1-38320_1-38319del
NM_015384.4:c.5739_5740del NP_056199.2:p.Trp1914ValfsTer8
NM_133433.3:c.5739_5740del NP_597677.2:p.Trp1914ValfsTer8
XM_005248280.2:c.5739_5740del XP_005248337.1:p.Trp1914ValfsTer8
XM_005248282.3:c.4995_4996del XP_005248339.2:p.Trp1666ValfsTer8
XM_006714467.2:c.5739_5740del XP_006714530.1:p.Trp1914ValfsTer8
XM_006714468.1:c.5541_5542del XP_006714531.1:p.Trp1848ValfsTer8
XM_011514014.1:c.5358_5359del XP_011512316.1:p.Trp1787ValfsTer8
XM_011514015.1:c.5739_5740del XP_011512317.1:p.Trp1914ValfsTer8
XM_005248280.3:c.5739_5740del XP_005248337.1:p.Trp1914ValfsTer8
XM_005248282.5:c.5079_5080del XP_005248339.3:p.Trp1694ValfsTer8
XM_006714468.2:c.5541_5542del XP_006714531.1:p.Trp1848ValfsTer8
XM_017009329.1:c.5739_5740del XP_016864818.1:p.Trp1914ValfsTer8
XM_017009330.2:c.4122_4123del XP_016864819.1:p.Trp1375ValfsTer8
XM_017009331.1:c.4113_4114del XP_016864820.1:p.Trp1372ValfsTer8
NM_133433.4:c.5739_5740del MANE Select NP_597677.2:p.Trp1914ValfsTer8
NM_015384.5:c.5739_5740del NP_056199.2:p.Trp1914ValfsTer8
Search 100 bp 5'
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