Canonical Allele Identifier: CA2983484570

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045589_37045590insCCTAAT , CM000667.2:g.37045589_37045590insCCTAAT	GRCh38
NC_000005.9:g.37045691_37045692insCCTAAT , CM000667.1:g.37045691_37045692insCCTAAT	GRCh37
NC_000005.8:g.37081448_37081449insCCTAAT	NCBI36
NG_006987.1:g.173707_173708insCCTAAT
NG_006987.2:g.173707_173708insCCTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6490_6491insCCTAAT MANE Select	ENSP00000282516.8:p.Asn2164ThrfsTer2
ENST00000652901.1:c.6490_6491insCCTAAT	ENSP00000499536.1:p.Asn2164ThrfsTer2
ENST00000282516.12:c.6490_6491insCCTAAT	ENSP00000282516.8:p.Asn2164ThrfsTer2
ENST00000448238.2:c.6490_6491insCCTAAT	ENSP00000406266.2:p.Asn2164ThrfsTer2
ENST00000621733.1:c.1-18989_1-18988insCCTAAT	ENSP00000480694.1:n.1-18989_1-18988insCCTAAT
NM_015384.4:c.6490_6491insCCTAAT	NP_056199.2:p.Asn2164ThrfsTer2
NM_133433.3:c.6490_6491insCCTAAT	NP_597677.2:p.Asn2164ThrfsTer2
XM_005248280.2:c.6490_6491insCCTAAT	XP_005248337.1:p.Asn2164ThrfsTer2
XM_005248282.3:c.5746_5747insCCTAAT	XP_005248339.2:p.Asn1916ThrfsTer2
XM_006714467.2:c.6490_6491insCCTAAT	XP_006714530.1:p.Asn2164ThrfsTer2
XM_006714468.1:c.6292_6293insCCTAAT	XP_006714531.1:p.Asn2098ThrfsTer2
XM_011514014.1:c.6109_6110insCCTAAT	XP_011512316.1:p.Asn2037ThrfsTer2
XM_011514015.1:c.6490_6491insCCTAAT	XP_011512317.1:p.Asn2164ThrfsTer2
XM_005248280.3:c.6490_6491insCCTAAT	XP_005248337.1:p.Asn2164ThrfsTer2
XM_005248282.5:c.5830_5831insCCTAAT	XP_005248339.3:p.Asn1944ThrfsTer2
XM_006714468.2:c.6292_6293insCCTAAT	XP_006714531.1:p.Asn2098ThrfsTer2
XM_017009329.1:c.6490_6491insCCTAAT	XP_016864818.1:p.Asn2164ThrfsTer2
XM_017009330.2:c.4873_4874insCCTAAT	XP_016864819.1:p.Asn1625ThrfsTer2
XM_017009331.1:c.4864_4865insCCTAAT	XP_016864820.1:p.Asn1622ThrfsTer2
NM_133433.4:c.6490_6491insCCTAAT MANE Select	NP_597677.2:p.Asn2164ThrfsTer2
NM_015384.5:c.6490_6491insCCTAAT	NP_056199.2:p.Asn2164ThrfsTer2