Allele Registry

Canonical Allele Identifier: CA267566

Gene: NIPBL HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.37060947del

GRCh37 chr5:g.37061049del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000086392

RCV000256022

RCV003964960

ClinVar Variation:

99942

dbSNP:

80358368

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060947del , CM000667.2:g.37060947del	GRCh38
NC_000005.9:g.37061049del , CM000667.1:g.37061049del	GRCh37
NC_000005.8:g.37096806del	NCBI36
NG_006987.1:g.189065del
NG_006987.2:g.189065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7789del MANE Select	ENSP00000282516.8:p.Leu2597CysfsTer14
ENST00000652901.1:c.7642del	ENSP00000499536.1:p.Leu2548CysfsTer14
ENST00000282516.12:c.7789del	ENSP00000282516.8:p.Leu2597CysfsTer14
ENST00000448238.2:c.7789del	ENSP00000406266.2:p.Leu2597CysfsTer14
ENST00000513819.1:c.263+1782del	ENSP00000421504.1:n.263+1782del
ENST00000514335.1:n.1671del
ENST00000621733.1:c.1-3631del	ENSP00000480694.1:n.1-3631del
NM_015384.4:c.7789del	NP_056199.2:p.Leu2597CysfsTer14
NM_133433.3:c.7789del	NP_597677.2:p.Leu2597CysfsTer14
XM_005248280.2:c.7789del	XP_005248337.1:p.Leu2597CysfsTer14
XM_005248282.3:c.7045del	XP_005248339.2:p.Leu2349CysfsTer14
XM_006714467.2:c.7642del	XP_006714530.1:p.Leu2548CysfsTer14
XM_006714468.1:c.7591del	XP_006714531.1:p.Leu2531CysfsTer14
XM_011514014.1:c.7408del	XP_011512316.1:p.Leu2470CysfsTer14
XM_005248280.3:c.7789del	XP_005248337.1:p.Leu2597CysfsTer14
XM_005248282.5:c.7129del	XP_005248339.3:p.Leu2377CysfsTer14
XM_006714468.2:c.7591del	XP_006714531.1:p.Leu2531CysfsTer14
XM_017009329.1:c.7642del	XP_016864818.1:p.Leu2548CysfsTer14
XM_017009330.2:c.6172del	XP_016864819.1:p.Leu2058CysfsTer14
XM_017009331.1:c.6163del	XP_016864820.1:p.Leu2055CysfsTer14
NM_133433.4:c.7789del MANE Select	NP_597677.2:p.Leu2597CysfsTer14
NM_015384.5:c.7789del	NP_056199.2:p.Leu2597CysfsTer14

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