Canonical Allele Identifier: CA2564645715

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986048del , CM000667.2:g.36986048del	GRCh38
NC_000005.9:g.36986150del , CM000667.1:g.36986150del	GRCh37
NC_000005.8:g.37021907del	NCBI36
NG_006987.1:g.114166del
NG_006987.2:g.114166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2868del MANE Select	ENSP00000282516.8:p.Phe956LeufsTer23
ENST00000652901.1:c.2868del	ENSP00000499536.1:p.Phe956LeufsTer23
ENST00000282516.12:c.2868del	ENSP00000282516.8:p.Phe956LeufsTer23
ENST00000448238.2:c.2868del	ENSP00000406266.2:p.Phe956LeufsTer23
ENST00000504430.5:n.2488del
ENST00000621733.1:c.1-78530del	ENSP00000480694.1:n.1-78530del
NM_015384.4:c.2868del	NP_056199.2:p.Phe956LeufsTer23
NM_133433.3:c.2868del	NP_597677.2:p.Phe956LeufsTer23
XM_005248280.2:c.2868del	XP_005248337.1:p.Phe956LeufsTer23
XM_005248282.3:c.2124del	XP_005248339.2:p.Phe708LeufsTer23
XM_006714467.2:c.2868del	XP_006714530.1:p.Phe956LeufsTer23
XM_006714468.1:c.2868del	XP_006714531.1:p.Phe956LeufsTer23
XM_011514014.1:c.2868del	XP_011512316.1:p.Phe956LeufsTer23
XM_011514015.1:c.2868del	XP_011512317.1:p.Phe956LeufsTer23
XM_005248280.3:c.2868del	XP_005248337.1:p.Phe956LeufsTer23
XM_005248282.5:c.2208del	XP_005248339.3:p.Phe736LeufsTer23
XM_006714468.2:c.2868del	XP_006714531.1:p.Phe956LeufsTer23
XM_017009329.1:c.2868del	XP_016864818.1:p.Phe956LeufsTer23
XM_017009330.2:c.1251del	XP_016864819.1:p.Phe417LeufsTer23
XM_017009331.1:c.1496-9574del	XP_016864820.1:n.1496-9574del
NM_133433.4:c.2868del MANE Select	NP_597677.2:p.Phe956LeufsTer23
NM_015384.5:c.2868del	NP_056199.2:p.Phe956LeufsTer23