Canonical Allele Identifier: CA1139655871

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 950707
• ClinVar RCV Id: RCV001222474
• dbSNP Id: rs1744695193

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2479del MANE Select	ENSP00000282516.8:p.Arg827GlyfsTer20
ENST00000652901.1:c.2479del	ENSP00000499536.1:p.Arg827GlyfsTer20
ENST00000282516.12:c.2479del	ENSP00000282516.8:p.Arg827GlyfsTer20
ENST00000448238.2:c.2479del	ENSP00000406266.2:p.Arg827GlyfsTer20
ENST00000504430.5:n.2099del
ENST00000621733.1:c.1-78919del	ENSP00000480694.1:n.1-78919del
NM_015384.4:c.2479del	NP_056199.2:p.Arg827GlyfsTer20
NM_133433.3:c.2479del	NP_597677.2:p.Arg827GlyfsTer20
XM_005248280.2:c.2479del	XP_005248337.1:p.Arg827GlyfsTer20
XM_005248282.3:c.1735del	XP_005248339.2:p.Arg579GlyfsTer20
XM_006714467.2:c.2479del	XP_006714530.1:p.Arg827GlyfsTer20
XM_006714468.1:c.2479del	XP_006714531.1:p.Arg827GlyfsTer20
XM_011514014.1:c.2479del	XP_011512316.1:p.Arg827GlyfsTer20
XM_011514015.1:c.2479del	XP_011512317.1:p.Arg827GlyfsTer20
XM_005248280.3:c.2479del	XP_005248337.1:p.Arg827GlyfsTer20
XM_005248282.5:c.1819del	XP_005248339.3:p.Arg607GlyfsTer20
XM_006714468.2:c.2479del	XP_006714531.1:p.Arg827GlyfsTer20
XM_017009329.1:c.2479del	XP_016864818.1:p.Arg827GlyfsTer20
XM_017009330.2:c.862del	XP_016864819.1:p.Arg288GlyfsTer20
XM_017009331.1:c.1495+9257del	XP_016864820.1:n.1495+9257del
NM_133433.4:c.2479del MANE Select	NP_597677.2:p.Arg827GlyfsTer20
NM_015384.5:c.2479del	NP_056199.2:p.Arg827GlyfsTer20