Canonical Allele Identifier: CA333586

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 180195
• ClinVar RCV Id: RCV000157047
• dbSNP Id: rs727503771
• MyVariant Identifiers: chr5:g.37063931_37063968del (hg19) ; chr5:g.37063829_37063866del (hg38)
• PubMed: PMID:25574841

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063832_37063869del , CM000667.2:g.37063832_37063869del	GRCh38
NC_000005.9:g.37063934_37063971del , CM000667.1:g.37063934_37063971del	GRCh37
NC_000005.8:g.37099691_37099728del	NCBI36
NG_006987.1:g.191950_191987del
NG_006987.2:g.191950_191987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7903_7940del MANE Select	ENSP00000282516.8:p.Glu2635GlnfsTer13
ENST00000652901.1:c.7756_7793del	ENSP00000499536.1:p.Glu2586GlnfsTer13
ENST00000282516.12:c.7903_7940del	ENSP00000282516.8:p.Glu2635GlnfsTer13
ENST00000448238.2:c.7903_7940del	ENSP00000406266.2:p.Glu2635GlnfsTer13
ENST00000513819.1:c.306_343del	ENSP00000421504.1:p.Lys102AsnfsTer?
ENST00000514335.1:n.1785_1822del
ENST00000621733.1:c.1-746_1-709del	ENSP00000480694.1:n.1-746_1-709del
NM_015384.4:c.7903_7940del	NP_056199.2:p.Glu2635GlnfsTer13
NM_133433.3:c.7903_7940del	NP_597677.2:p.Glu2635GlnfsTer13
XM_005248280.2:c.7903_7940del	XP_005248337.1:p.Glu2635GlnfsTer13
XM_005248282.3:c.7159_7196del	XP_005248339.2:p.Glu2387GlnfsTer13
XM_006714467.2:c.7756_7793del	XP_006714530.1:p.Glu2586GlnfsTer13
XM_006714468.1:c.7705_7742del	XP_006714531.1:p.Glu2569GlnfsTer13
XM_011514014.1:c.7522_7559del	XP_011512316.1:p.Glu2508GlnfsTer13
XM_005248280.3:c.7903_7940del	XP_005248337.1:p.Glu2635GlnfsTer13
XM_005248282.5:c.7243_7280del	XP_005248339.3:p.Glu2415GlnfsTer13
XM_006714468.2:c.7705_7742del	XP_006714531.1:p.Glu2569GlnfsTer13
XM_017009329.1:c.7756_7793del	XP_016864818.1:p.Glu2586GlnfsTer13
XM_017009330.2:c.6286_6323del	XP_016864819.1:p.Glu2096GlnfsTer13
XM_017009331.1:c.6277_6314del	XP_016864820.1:p.Glu2093GlnfsTer13
NM_133433.4:c.7903_7940del MANE Select	NP_597677.2:p.Glu2635GlnfsTer13
NM_015384.5:c.7903_7940del	NP_056199.2:p.Glu2635GlnfsTer13