Canonical Allele Identifier: CA2573052498

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1320125
• ClinVar RCV Id: RCV001775298
• dbSNP Id: rs2149597479

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36953706dup , CM000667.2:g.36953706dup	GRCh38
NC_000005.9:g.36953808dup , CM000667.1:g.36953808dup	GRCh37
NC_000005.8:g.36989565dup	NCBI36
NG_006987.1:g.81824dup
NG_006987.2:g.81824dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.10dup MANE Select	ENSP00000282516.8:p.Asp4GlyfsTer15
ENST00000652901.1:c.10dup	ENSP00000499536.1:p.Asp4GlyfsTer15
ENST00000282516.12:c.10dup	ENSP00000282516.8:p.Asp4GlyfsTer15
ENST00000448238.2:c.10dup	ENSP00000406266.2:p.Asp4GlyfsTer15
ENST00000621733.1:c.-1+76684dup	ENSP00000480694.1:n.-1+76684dup
NM_015384.4:c.10dup	NP_056199.2:p.Asp4GlyfsTer15
NM_133433.3:c.10dup	NP_597677.2:p.Asp4GlyfsTer15
XM_005248280.2:c.10dup	XP_005248337.1:p.Asp4GlyfsTer15
XM_006714467.2:c.10dup	XP_006714530.1:p.Asp4GlyfsTer15
XM_006714468.1:c.10dup	XP_006714531.1:p.Asp4GlyfsTer15
XM_011514014.1:c.10dup	XP_011512316.1:p.Asp4GlyfsTer15
XM_011514015.1:c.10dup	XP_011512317.1:p.Asp4GlyfsTer15
XM_005248280.3:c.10dup	XP_005248337.1:p.Asp4GlyfsTer15
XM_006714468.2:c.10dup	XP_006714531.1:p.Asp4GlyfsTer15
XM_017009329.1:c.10dup	XP_016864818.1:p.Asp4GlyfsTer15
XM_017009331.1:c.10dup	XP_016864820.1:p.Asp4GlyfsTer15
NM_133433.4:c.10dup MANE Select	NP_597677.2:p.Asp4GlyfsTer15
NM_015384.5:c.10dup	NP_056199.2:p.Asp4GlyfsTer15