Canonical Allele Identifier: CA2580073211

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1697850
• ClinVar RCV Id: RCV002269134
• dbSNP Id: rs2149721417

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038657_37038660del , CM000667.2:g.37038657_37038660del	GRCh38
NC_000005.9:g.37038759_37038762del , CM000667.1:g.37038759_37038762del	GRCh37
NC_000005.8:g.37074516_37074519del	NCBI36
NG_006987.1:g.166775_166778del
NG_006987.2:g.166775_166778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6027_6030del MANE Select	ENSP00000282516.8:p.Leu2009PhefsTer6
ENST00000652901.1:c.6027_6030del	ENSP00000499536.1:p.Leu2009PhefsTer6
ENST00000282516.12:c.6027_6030del	ENSP00000282516.8:p.Leu2009PhefsTer6
ENST00000448238.2:c.6027_6030del	ENSP00000406266.2:p.Leu2009PhefsTer6
ENST00000621733.1:c.1-25921_1-25918del	ENSP00000480694.1:n.1-25921_1-25918del
NM_015384.4:c.6027_6030del	NP_056199.2:p.Leu2009PhefsTer6
NM_133433.3:c.6027_6030del	NP_597677.2:p.Leu2009PhefsTer6
XM_005248280.2:c.6027_6030del	XP_005248337.1:p.Leu2009PhefsTer6
XM_005248282.3:c.5283_5286del	XP_005248339.2:p.Leu1761PhefsTer6
XM_006714467.2:c.6027_6030del	XP_006714530.1:p.Leu2009PhefsTer6
XM_006714468.1:c.5829_5832del	XP_006714531.1:p.Leu1943PhefsTer6
XM_011514014.1:c.5646_5649del	XP_011512316.1:p.Leu1882PhefsTer6
XM_011514015.1:c.6027_6030del	XP_011512317.1:p.Leu2009PhefsTer6
XM_005248280.3:c.6027_6030del	XP_005248337.1:p.Leu2009PhefsTer6
XM_005248282.5:c.5367_5370del	XP_005248339.3:p.Leu1789PhefsTer6
XM_006714468.2:c.5829_5832del	XP_006714531.1:p.Leu1943PhefsTer6
XM_017009329.1:c.6027_6030del	XP_016864818.1:p.Leu2009PhefsTer6
XM_017009330.2:c.4410_4413del	XP_016864819.1:p.Leu1470PhefsTer6
XM_017009331.1:c.4401_4404del	XP_016864820.1:p.Leu1467PhefsTer6
NM_133433.4:c.6027_6030del MANE Select	NP_597677.2:p.Leu2009PhefsTer6
NM_015384.5:c.6027_6030del	NP_056199.2:p.Leu2009PhefsTer6