Canonical Allele Identifier: CA272031
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159064
ClinVar RCV Id: RCV000146557
dbSNP Id: rs587783910
MyVariant Identifiers: chr5:g.36986055_36986056del (hg19) chr5:g.36985953_36985954del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985953_36985954del , CM000667.2:g.36985953_36985954del GRCh38
NC_000005.9:g.36986055_36986056del , CM000667.1:g.36986055_36986056del GRCh37
NC_000005.8:g.37021812_37021813del NCBI36
NG_006987.1:g.114071_114072del
NG_006987.2:g.114071_114072del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2773_2774del MANE Select ENSP00000282516.8:p.Lys925GlufsTer2
ENST00000652901.1:c.2773_2774del ENSP00000499536.1:p.Lys925GlufsTer2
ENST00000282516.12:c.2773_2774del ENSP00000282516.8:p.Lys925GlufsTer2
ENST00000448238.2:c.2773_2774del ENSP00000406266.2:p.Lys925GlufsTer2
ENST00000504430.5:n.2393_2394del
ENST00000621733.1:c.1-78625_1-78624del ENSP00000480694.1:n.1-78625_1-78624del
NM_015384.4:c.2773_2774del NP_056199.2:p.Lys925GlufsTer2
NM_133433.3:c.2773_2774del NP_597677.2:p.Lys925GlufsTer2
XM_005248280.2:c.2773_2774del XP_005248337.1:p.Lys925GlufsTer2
XM_005248282.3:c.2029_2030del XP_005248339.2:p.Lys677GlufsTer2
XM_006714467.2:c.2773_2774del XP_006714530.1:p.Lys925GlufsTer2
XM_006714468.1:c.2773_2774del XP_006714531.1:p.Lys925GlufsTer2
XM_011514014.1:c.2773_2774del XP_011512316.1:p.Lys925GlufsTer2
XM_011514015.1:c.2773_2774del XP_011512317.1:p.Lys925GlufsTer2
XM_005248280.3:c.2773_2774del XP_005248337.1:p.Lys925GlufsTer2
XM_005248282.5:c.2113_2114del XP_005248339.3:p.Lys705GlufsTer2
XM_006714468.2:c.2773_2774del XP_006714531.1:p.Lys925GlufsTer2
XM_017009329.1:c.2773_2774del XP_016864818.1:p.Lys925GlufsTer2
XM_017009330.2:c.1156_1157del XP_016864819.1:p.Lys386GlufsTer2
XM_017009331.1:c.1495+9551_1495+9552del XP_016864820.1:n.1495+9551_1495+9552del
NM_133433.4:c.2773_2774del MANE Select NP_597677.2:p.Lys925GlufsTer2
NM_015384.5:c.2773_2774del NP_056199.2:p.Lys925GlufsTer2
Search 100 bp 5'
Search 100 bp 3'