Canonical Allele Identifier: CA277263

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 211629
• ClinVar RCV Id: RCV000194119
• dbSNP Id: rs797045753
• MyVariant Identifiers: chr5:g.36958261_36958262insG (hg19) ; chr5:g.36958159_36958160insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958159_36958160insG , CM000667.2:g.36958159_36958160insG	GRCh38
NC_000005.9:g.36958261_36958262insG , CM000667.1:g.36958261_36958262insG	GRCh37
NC_000005.8:g.36994018_36994019insG	NCBI36
NG_006987.1:g.86277_86278insG
NG_006987.2:g.86277_86278insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.286_287insG MANE Select	ENSP00000282516.8:p.Leu96CysfsTer10
ENST00000652901.1:c.286_287insG	ENSP00000499536.1:p.Leu96CysfsTer10
ENST00000282516.12:c.286_287insG	ENSP00000282516.8:p.Leu96CysfsTer10
ENST00000448238.2:c.286_287insG	ENSP00000406266.2:p.Leu96CysfsTer10
ENST00000505998.5:n.265_266insG
ENST00000621733.1:c.-1+81137_-1+81138insG	ENSP00000480694.1:n.-1+81137_-1+81138insG
NM_015384.4:c.286_287insG	NP_056199.2:p.Leu96CysfsTer10
NM_133433.3:c.286_287insG	NP_597677.2:p.Leu96CysfsTer10
XM_005248280.2:c.286_287insG	XP_005248337.1:p.Leu96CysfsTer10
XM_006714467.2:c.286_287insG	XP_006714530.1:p.Leu96CysfsTer10
XM_006714468.1:c.286_287insG	XP_006714531.1:p.Leu96CysfsTer10
XM_011514014.1:c.286_287insG	XP_011512316.1:p.Leu96CysfsTer10
XM_011514015.1:c.286_287insG	XP_011512317.1:p.Leu96CysfsTer10
XM_005248280.3:c.286_287insG	XP_005248337.1:p.Leu96CysfsTer10
XM_006714468.2:c.286_287insG	XP_006714531.1:p.Leu96CysfsTer10
XM_017009329.1:c.286_287insG	XP_016864818.1:p.Leu96CysfsTer10
XM_017009331.1:c.286_287insG	XP_016864820.1:p.Leu96CysfsTer10
NM_133433.4:c.286_287insG MANE Select	NP_597677.2:p.Leu96CysfsTer10
NM_015384.5:c.286_287insG	NP_056199.2:p.Leu96CysfsTer10