Canonical Allele Identifier: CA916082702

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 841447
• ClinVar RCV Id: RCV001043668
• dbSNP Id: rs1740652803

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36953762_36953894del , CM000667.2:g.36953762_36953894del	GRCh38
NC_000005.9:g.36953864_36953996del , CM000667.1:g.36953864_36953996del	GRCh37
NC_000005.8:g.36989621_36989753del	NCBI36
NG_006987.1:g.81880_82012del
NG_006987.2:g.81880_82012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.64+2_64+134del MANE Select	ENSP00000282516.8:n.64+2_64+134del
ENST00000652901.1:c.64+2_64+134del	ENSP00000499536.1:n.64+2_64+134del
ENST00000282516.12:c.64+2_64+134del	ENSP00000282516.8:n.64+2_64+134del
ENST00000448238.2:c.64+2_64+134del	ENSP00000406266.2:n.64+2_64+134del
ENST00000621733.1:c.-1+76740_-1+76872del	ENSP00000480694.1:n.-1+76740_-1+76872del
NM_015384.4:c.64+2_64+134del	NP_056199.2:n.64+2_64+134del
NM_133433.3:c.64+2_64+134del	NP_597677.2:n.64+2_64+134del
XM_005248280.2:c.64+2_64+134del	XP_005248337.1:n.64+2_64+134del
XM_006714467.2:c.64+2_64+134del	XP_006714530.1:n.64+2_64+134del
XM_006714468.1:c.64+2_64+134del	XP_006714531.1:n.64+2_64+134del
XM_011514014.1:c.64+2_64+134del	XP_011512316.1:n.64+2_64+134del
XM_011514015.1:c.64+2_64+134del	XP_011512317.1:n.64+2_64+134del
XM_005248280.3:c.64+2_64+134del	XP_005248337.1:n.64+2_64+134del
XM_006714468.2:c.64+2_64+134del	XP_006714531.1:n.64+2_64+134del
XM_017009329.1:c.64+2_64+134del	XP_016864818.1:n.64+2_64+134del
XM_017009331.1:c.64+2_64+134del	XP_016864820.1:n.64+2_64+134del
NM_133433.4:c.64+2_64+134del MANE Select	NP_597677.2:n.64+2_64+134del
NM_015384.5:c.64+2_64+134del	NP_056199.2:n.64+2_64+134del