Canonical Allele Identifier: CA1539568964

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975833_36975834delinsAT , CM000667.2:g.36975833_36975834delinsAT	GRCh38
NC_000005.9:g.36975935_36975936delinsAT , CM000667.1:g.36975935_36975936delinsAT	GRCh37
NC_000005.8:g.37011692_37011693delinsAT	NCBI36
NG_006987.1:g.103951_103952delinsAT
NG_006987.2:g.103951_103952delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.926_927delinsAT MANE Select	ENSP00000282516.8:p.Asp309=
ENST00000652901.1:c.926_927delinsAT	ENSP00000499536.1:p.Asp309=
ENST00000282516.12:c.926_927delinsAT	ENSP00000282516.8:p.Asp309=
ENST00000448238.2:c.926_927delinsAT	ENSP00000406266.2:p.Asp309=
ENST00000504430.5:n.546_547delinsAT
ENST00000505998.5:n.905_906delinsAT
ENST00000621733.1:c.1-88745_1-88744delinsAT	ENSP00000480694.1:n.1-88745_1-88744delinsAT
NM_015384.4:c.926_927delinsAT	NP_056199.2:p.Asp309=
NM_133433.3:c.926_927delinsAT	NP_597677.2:p.Asp309=
XM_005248280.2:c.926_927delinsAT	XP_005248337.1:p.Asp309=
XM_005248282.3:c.182_183delinsAT	XP_005248339.2:p.Asp61=
XM_006714467.2:c.926_927delinsAT	XP_006714530.1:p.Asp309=
XM_006714468.1:c.926_927delinsAT	XP_006714531.1:p.Asp309=
XM_011514014.1:c.926_927delinsAT	XP_011512316.1:p.Asp309=
XM_011514015.1:c.926_927delinsAT	XP_011512317.1:p.Asp309=
XM_005248280.3:c.926_927delinsAT	XP_005248337.1:p.Asp309=
XM_005248282.5:c.266_267delinsAT	XP_005248339.3:p.Asp89=
XM_006714468.2:c.926_927delinsAT	XP_006714531.1:p.Asp309=
XM_017009329.1:c.926_927delinsAT	XP_016864818.1:p.Asp309=
XM_017009331.1:c.926_927delinsAT	XP_016864820.1:p.Asp309=
NM_133433.4:c.926_927delinsAT MANE Select	NP_597677.2:p.Asp309=
NM_015384.5:c.926_927delinsAT	NP_056199.2:p.Asp309=