Canonical Allele Identifier: CA117052834

Gene: NIPBL

Linked Data

• dbSNP Id: rs34422680
• MyVariant Identifiers: chr5:g.36995893_36995894insG (hg19) ; chr5:g.36995791_36995792insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995792dup , CM000667.2:g.36995792dup	GRCh38
NC_000005.9:g.36995894dup , CM000667.1:g.36995894dup	GRCh37
NC_000005.8:g.37031651dup	NCBI36
NG_006987.1:g.123910dup
NG_006987.2:g.123910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3292dup MANE Select	ENSP00000282516.8:p.Glu1098GlyfsTer4
ENST00000652901.1:c.3292dup	ENSP00000499536.1:p.Glu1098GlyfsTer4
ENST00000282516.12:c.3292dup	ENSP00000282516.8:p.Glu1098GlyfsTer4
ENST00000448238.2:c.3292dup	ENSP00000406266.2:p.Glu1098GlyfsTer4
ENST00000503274.1:n.643dup
ENST00000504430.5:n.2912dup
ENST00000509429.1:n.43dup
ENST00000621733.1:c.1-68786dup	ENSP00000480694.1:n.1-68786dup
NM_015384.4:c.3292dup	NP_056199.2:p.Glu1098GlyfsTer4
NM_133433.3:c.3292dup	NP_597677.2:p.Glu1098GlyfsTer4
XM_005248280.2:c.3292dup	XP_005248337.1:p.Glu1098GlyfsTer4
XM_005248282.3:c.2548dup	XP_005248339.2:p.Glu850GlyfsTer4
XM_006714467.2:c.3292dup	XP_006714530.1:p.Glu1098GlyfsTer4
XM_006714468.1:c.3292dup	XP_006714531.1:p.Glu1098GlyfsTer4
XM_011514014.1:c.3122-5025dup	XP_011512316.1:n.3122-5025dup
XM_011514015.1:c.3292dup	XP_011512317.1:p.Glu1098GlyfsTer4
XM_005248280.3:c.3292dup	XP_005248337.1:p.Glu1098GlyfsTer4
XM_005248282.5:c.2632dup	XP_005248339.3:p.Glu878GlyfsTer4
XM_006714468.2:c.3292dup	XP_006714531.1:p.Glu1098GlyfsTer4
XM_017009329.1:c.3292dup	XP_016864818.1:p.Glu1098GlyfsTer4
XM_017009330.2:c.1675dup	XP_016864819.1:p.Glu559GlyfsTer4
XM_017009331.1:c.1666dup	XP_016864820.1:p.Glu556GlyfsTer4
NM_133433.4:c.3292dup MANE Select	NP_597677.2:p.Glu1098GlyfsTer4
NM_015384.5:c.3292dup	NP_056199.2:p.Glu1098GlyfsTer4