Canonical Allele Identifier: CA2580073223

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1698448
• ClinVar RCV Id: RCV002271359
• dbSNP Id: rs2149628965

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976365dup , CM000667.2:g.36976365dup	GRCh38
NC_000005.9:g.36976467dup , CM000667.1:g.36976467dup	GRCh37
NC_000005.8:g.37012224dup	NCBI36
NG_006987.1:g.104483dup
NG_006987.2:g.104483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1458dup MANE Select	ENSP00000282516.8:p.Glu487Ter
ENST00000652901.1:c.1458dup	ENSP00000499536.1:p.Glu487Ter
ENST00000282516.12:c.1458dup	ENSP00000282516.8:p.Glu487Ter
ENST00000448238.2:c.1458dup	ENSP00000406266.2:p.Glu487Ter
ENST00000504430.5:n.1078dup
ENST00000621733.1:c.1-88213dup	ENSP00000480694.1:n.1-88213dup
NM_015384.4:c.1458dup	NP_056199.2:p.Glu487Ter
NM_133433.3:c.1458dup	NP_597677.2:p.Glu487Ter
XM_005248280.2:c.1458dup	XP_005248337.1:p.Glu487Ter
XM_005248282.3:c.714dup	XP_005248339.2:p.Glu239Ter
XM_006714467.2:c.1458dup	XP_006714530.1:p.Glu487Ter
XM_006714468.1:c.1458dup	XP_006714531.1:p.Glu487Ter
XM_011514014.1:c.1458dup	XP_011512316.1:p.Glu487Ter
XM_011514015.1:c.1458dup	XP_011512317.1:p.Glu487Ter
XM_005248280.3:c.1458dup	XP_005248337.1:p.Glu487Ter
XM_005248282.5:c.798dup	XP_005248339.3:p.Glu267Ter
XM_006714468.2:c.1458dup	XP_006714531.1:p.Glu487Ter
XM_017009329.1:c.1458dup	XP_016864818.1:p.Glu487Ter
XM_017009331.1:c.1458dup	XP_016864820.1:p.Glu487Ter
NM_133433.4:c.1458dup MANE Select	NP_597677.2:p.Glu487Ter
NM_015384.5:c.1458dup	NP_056199.2:p.Glu487Ter