Canonical Allele Identifier: CA913189370

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 596965
• ClinVar RCV Id: RCV000732949
• dbSNP Id: rs1561101302

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975834delinsACA , CM000667.2:g.36975834delinsACA	GRCh38
NC_000005.9:g.36975936delinsACA , CM000667.1:g.36975936delinsACA	GRCh37
NC_000005.8:g.37011693delinsACA	NCBI36
NG_006987.1:g.103952delinsACA
NG_006987.2:g.103952delinsACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.927delinsACA MANE Select	ENSP00000282516.8:p.Asp309GlufsTer9
ENST00000652901.1:c.927delinsACA	ENSP00000499536.1:p.Asp309GlufsTer9
ENST00000282516.12:c.927delinsACA	ENSP00000282516.8:p.Asp309GlufsTer9
ENST00000448238.2:c.927delinsACA	ENSP00000406266.2:p.Asp309GlufsTer9
ENST00000504430.5:n.547delinsACA
ENST00000505998.5:n.906delinsACA
ENST00000621733.1:c.1-88744delinsACA	ENSP00000480694.1:n.1-88744delinsACA
NM_015384.4:c.927delinsACA	NP_056199.2:p.Asp309GlufsTer9
NM_133433.3:c.927delinsACA	NP_597677.2:p.Asp309GlufsTer9
XM_005248280.2:c.927delinsACA	XP_005248337.1:p.Asp309GlufsTer9
XM_005248282.3:c.183delinsACA	XP_005248339.2:p.Asp61GlufsTer9
XM_006714467.2:c.927delinsACA	XP_006714530.1:p.Asp309GlufsTer9
XM_006714468.1:c.927delinsACA	XP_006714531.1:p.Asp309GlufsTer9
XM_011514014.1:c.927delinsACA	XP_011512316.1:p.Asp309GlufsTer9
XM_011514015.1:c.927delinsACA	XP_011512317.1:p.Asp309GlufsTer9
XM_005248280.3:c.927delinsACA	XP_005248337.1:p.Asp309GlufsTer9
XM_005248282.5:c.267delinsACA	XP_005248339.3:p.Asp89GlufsTer9
XM_006714468.2:c.927delinsACA	XP_006714531.1:p.Asp309GlufsTer9
XM_017009329.1:c.927delinsACA	XP_016864818.1:p.Asp309GlufsTer9
XM_017009331.1:c.927delinsACA	XP_016864820.1:p.Asp309GlufsTer9
NM_133433.4:c.927delinsACA MANE Select	NP_597677.2:p.Asp309GlufsTer9
NM_015384.5:c.927delinsACA	NP_056199.2:p.Asp309GlufsTer9