Canonical Allele Identifier: CA2957056062

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976389dup , CM000667.2:g.36976389dup	GRCh38
NC_000005.9:g.36976491dup , CM000667.1:g.36976491dup	GRCh37
NC_000005.8:g.37012248dup	NCBI36
NG_006987.1:g.104507dup
NG_006987.2:g.104507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1482dup MANE Select	ENSP00000282516.8:p.Val495SerfsTer4
ENST00000652901.1:c.1482dup	ENSP00000499536.1:p.Val495SerfsTer4
ENST00000282516.12:c.1482dup	ENSP00000282516.8:p.Val495SerfsTer4
ENST00000448238.2:c.1482dup	ENSP00000406266.2:p.Val495SerfsTer4
ENST00000504430.5:n.1102dup
ENST00000621733.1:c.1-88189dup	ENSP00000480694.1:n.1-88189dup
NM_015384.4:c.1482dup	NP_056199.2:p.Val495SerfsTer4
NM_133433.3:c.1482dup	NP_597677.2:p.Val495SerfsTer4
XM_005248280.2:c.1482dup	XP_005248337.1:p.Val495SerfsTer4
XM_005248282.3:c.738dup	XP_005248339.2:p.Val247SerfsTer4
XM_006714467.2:c.1482dup	XP_006714530.1:p.Val495SerfsTer4
XM_006714468.1:c.1482dup	XP_006714531.1:p.Val495SerfsTer4
XM_011514014.1:c.1482dup	XP_011512316.1:p.Val495SerfsTer4
XM_011514015.1:c.1482dup	XP_011512317.1:p.Val495SerfsTer4
XM_005248280.3:c.1482dup	XP_005248337.1:p.Val495SerfsTer4
XM_005248282.5:c.822dup	XP_005248339.3:p.Val275SerfsTer4
XM_006714468.2:c.1482dup	XP_006714531.1:p.Val495SerfsTer4
XM_017009329.1:c.1482dup	XP_016864818.1:p.Val495SerfsTer4
XM_017009331.1:c.1482dup	XP_016864820.1:p.Val495SerfsTer4
NM_133433.4:c.1482dup MANE Select	NP_597677.2:p.Val495SerfsTer4
NM_015384.5:c.1482dup	NP_056199.2:p.Val495SerfsTer4