Canonical Allele Identifier: CA2840182095

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020622dup , CM000667.2:g.37020622dup	GRCh38
NC_000005.9:g.37020724dup , CM000667.1:g.37020724dup	GRCh37
NC_000005.8:g.37056481dup	NCBI36
NG_006987.1:g.148740dup
NG_006987.2:g.148740dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5174dup MANE Select	ENSP00000282516.8:p.Phe1726ValfsTer3
ENST00000652901.1:c.5174dup	ENSP00000499536.1:p.Phe1726ValfsTer3
ENST00000282516.12:c.5174dup	ENSP00000282516.8:p.Phe1726ValfsTer3
ENST00000448238.2:c.5174dup	ENSP00000406266.2:p.Phe1726ValfsTer3
ENST00000621733.1:c.1-43956dup	ENSP00000480694.1:n.1-43956dup
NM_015384.4:c.5174dup	NP_056199.2:p.Phe1726ValfsTer3
NM_133433.3:c.5174dup	NP_597677.2:p.Phe1726ValfsTer3
XM_005248280.2:c.5174dup	XP_005248337.1:p.Phe1726ValfsTer3
XM_005248282.3:c.4430dup	XP_005248339.2:p.Phe1478ValfsTer3
XM_006714467.2:c.5174dup	XP_006714530.1:p.Phe1726ValfsTer3
XM_006714468.1:c.4976dup	XP_006714531.1:p.Phe1660ValfsTer3
XM_011514014.1:c.4793dup	XP_011512316.1:p.Phe1599ValfsTer3
XM_011514015.1:c.5174dup	XP_011512317.1:p.Phe1726ValfsTer3
XM_005248280.3:c.5174dup	XP_005248337.1:p.Phe1726ValfsTer3
XM_005248282.5:c.4514dup	XP_005248339.3:p.Phe1506ValfsTer3
XM_006714468.2:c.4976dup	XP_006714531.1:p.Phe1660ValfsTer3
XM_017009329.1:c.5174dup	XP_016864818.1:p.Phe1726ValfsTer3
XM_017009330.2:c.3557dup	XP_016864819.1:p.Phe1187ValfsTer3
XM_017009331.1:c.3548dup	XP_016864820.1:p.Phe1184ValfsTer3
NM_133433.4:c.5174dup MANE Select	NP_597677.2:p.Phe1726ValfsTer3
NM_015384.5:c.5174dup	NP_056199.2:p.Phe1726ValfsTer3