Canonical Allele Identifier: CA2499217838

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1075044
• ClinVar RCV Id: RCV001388525
• dbSNP Id: rs2149646411

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986017dup , CM000667.2:g.36986017dup	GRCh38
NC_000005.9:g.36986119dup , CM000667.1:g.36986119dup	GRCh37
NC_000005.8:g.37021876dup	NCBI36
NG_006987.1:g.114135dup
NG_006987.2:g.114135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2837dup MANE Select	ENSP00000282516.8:p.Leu946PhefsTer20
ENST00000652901.1:c.2837dup	ENSP00000499536.1:p.Leu946PhefsTer20
ENST00000282516.12:c.2837dup	ENSP00000282516.8:p.Leu946PhefsTer20
ENST00000448238.2:c.2837dup	ENSP00000406266.2:p.Leu946PhefsTer20
ENST00000504430.5:n.2457dup
ENST00000621733.1:c.1-78561dup	ENSP00000480694.1:n.1-78561dup
NM_015384.4:c.2837dup	NP_056199.2:p.Leu946PhefsTer20
NM_133433.3:c.2837dup	NP_597677.2:p.Leu946PhefsTer20
XM_005248280.2:c.2837dup	XP_005248337.1:p.Leu946PhefsTer20
XM_005248282.3:c.2093dup	XP_005248339.2:p.Leu698PhefsTer20
XM_006714467.2:c.2837dup	XP_006714530.1:p.Leu946PhefsTer20
XM_006714468.1:c.2837dup	XP_006714531.1:p.Leu946PhefsTer20
XM_011514014.1:c.2837dup	XP_011512316.1:p.Leu946PhefsTer20
XM_011514015.1:c.2837dup	XP_011512317.1:p.Leu946PhefsTer20
XM_005248280.3:c.2837dup	XP_005248337.1:p.Leu946PhefsTer20
XM_005248282.5:c.2177dup	XP_005248339.3:p.Leu726PhefsTer20
XM_006714468.2:c.2837dup	XP_006714531.1:p.Leu946PhefsTer20
XM_017009329.1:c.2837dup	XP_016864818.1:p.Leu946PhefsTer20
XM_017009330.2:c.1220dup	XP_016864819.1:p.Leu407PhefsTer20
XM_017009331.1:c.1496-9605dup	XP_016864820.1:n.1496-9605dup
NM_133433.4:c.2837dup MANE Select	NP_597677.2:p.Leu946PhefsTer20
NM_015384.5:c.2837dup	NP_056199.2:p.Leu946PhefsTer20