Canonical Allele Identifier: CA2695204340

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016160_37016161delinsTTTGTTAGGTAAGAGA , CM000667.2:g.37016160_37016161delinsTTTGTTAGGTAAGAGA	GRCh38
NC_000005.9:g.37016262_37016263delinsTTTGTTAGGTAAGAGA , CM000667.1:g.37016262_37016263delinsTTTGTTAGGTAAGAGA	GRCh37
NC_000005.8:g.37052019_37052020delinsTTTGTTAGGTAAGAGA	NCBI36
NG_006987.1:g.144278_144279delinsTTTGTTAGGTAAGAGA
NG_006987.2:g.144278_144279delinsTTTGTTAGGTAAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4766_4767delinsTTTGTTAGGTAAGAGA MANE Select	ENSP00000282516.8:p.Gly1589ValfsTer3
ENST00000652901.1:c.4766_4767delinsTTTGTTAGGTAAGAGA	ENSP00000499536.1:p.Gly1589ValfsTer3
ENST00000282516.12:c.4766_4767delinsTTTGTTAGGTAAGAGA	ENSP00000282516.8:p.Gly1589ValfsTer3
ENST00000448238.2:c.4766_4767delinsTTTGTTAGGTAAGAGA	ENSP00000406266.2:p.Gly1589ValfsTer3
ENST00000621733.1:c.1-48418_1-48417delinsTTTGTTAGGTAAGAGA	ENSP00000480694.1:n.1-48418_1-48417delinsTTTGTTAGGTAAGAGA
NM_015384.4:c.4766_4767delinsTTTGTTAGGTAAGAGA	NP_056199.2:p.Gly1589ValfsTer3
NM_133433.3:c.4766_4767delinsTTTGTTAGGTAAGAGA	NP_597677.2:p.Gly1589ValfsTer3
XM_005248280.2:c.4766_4767delinsTTTGTTAGGTAAGAGA	XP_005248337.1:p.Gly1589ValfsTer3
XM_005248282.3:c.4022_4023delinsTTTGTTAGGTAAGAGA	XP_005248339.2:p.Gly1341ValfsTer3
XM_006714467.2:c.4766_4767delinsTTTGTTAGGTAAGAGA	XP_006714530.1:p.Gly1589ValfsTer3
XM_006714468.1:c.4568_4569delinsTTTGTTAGGTAAGAGA	XP_006714531.1:p.Gly1523ValfsTer3
XM_011514014.1:c.4385_4386delinsTTTGTTAGGTAAGAGA	XP_011512316.1:p.Gly1462ValfsTer3
XM_011514015.1:c.4766_4767delinsTTTGTTAGGTAAGAGA	XP_011512317.1:p.Gly1589ValfsTer3
XM_005248280.3:c.4766_4767delinsTTTGTTAGGTAAGAGA	XP_005248337.1:p.Gly1589ValfsTer3
XM_005248282.5:c.4106_4107delinsTTTGTTAGGTAAGAGA	XP_005248339.3:p.Gly1369ValfsTer3
XM_006714468.2:c.4568_4569delinsTTTGTTAGGTAAGAGA	XP_006714531.1:p.Gly1523ValfsTer3
XM_017009329.1:c.4766_4767delinsTTTGTTAGGTAAGAGA	XP_016864818.1:p.Gly1589ValfsTer3
XM_017009330.2:c.3149_3150delinsTTTGTTAGGTAAGAGA	XP_016864819.1:p.Gly1050ValfsTer3
XM_017009331.1:c.3140_3141delinsTTTGTTAGGTAAGAGA	XP_016864820.1:p.Gly1047ValfsTer3
NM_133433.4:c.4766_4767delinsTTTGTTAGGTAAGAGA MANE Select	NP_597677.2:p.Gly1589ValfsTer3
NM_015384.5:c.4766_4767delinsTTTGTTAGGTAAGAGA	NP_056199.2:p.Gly1589ValfsTer3