Canonical Allele Identifier: CA1539582780

Gene: NIPBL

Linked Data

• dbSNP Id: rs1744732408

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985889_36985890insGTTTTTGAACTATC , CM000667.2:g.36985889_36985890insGTTTTTGAACTATC	GRCh38
NC_000005.9:g.36985991_36985992insGTTTTTGAACTATC , CM000667.1:g.36985991_36985992insGTTTTTGAACTATC	GRCh37
NC_000005.8:g.37021748_37021749insGTTTTTGAACTATC	NCBI36
NG_006987.1:g.114007_114008insGTTTTTGAACTATC
NG_006987.2:g.114007_114008insGTTTTTGAACTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2709_2710insGTTTTTGAACTATC MANE Select	ENSP00000282516.8:p.Arg904ValfsTer30
ENST00000652901.1:c.2709_2710insGTTTTTGAACTATC	ENSP00000499536.1:p.Arg904ValfsTer30
ENST00000282516.12:c.2709_2710insGTTTTTGAACTATC	ENSP00000282516.8:p.Arg904ValfsTer30
ENST00000448238.2:c.2709_2710insGTTTTTGAACTATC	ENSP00000406266.2:p.Arg904ValfsTer30
ENST00000504430.5:n.2329_2330insGTTTTTGAACTATC
ENST00000621733.1:c.1-78689_1-78688insGTTTTTGAACTATC	ENSP00000480694.1:n.1-78689_1-78688insGTT...
NM_015384.4:c.2709_2710insGTTTTTGAACTATC	NP_056199.2:p.Arg904ValfsTer30
NM_133433.3:c.2709_2710insGTTTTTGAACTATC	NP_597677.2:p.Arg904ValfsTer30
XM_005248280.2:c.2709_2710insGTTTTTGAACTATC	XP_005248337.1:p.Arg904ValfsTer30
XM_005248282.3:c.1965_1966insGTTTTTGAACTATC	XP_005248339.2:p.Arg656ValfsTer30
XM_006714467.2:c.2709_2710insGTTTTTGAACTATC	XP_006714530.1:p.Arg904ValfsTer30
XM_006714468.1:c.2709_2710insGTTTTTGAACTATC	XP_006714531.1:p.Arg904ValfsTer30
XM_011514014.1:c.2709_2710insGTTTTTGAACTATC	XP_011512316.1:p.Arg904ValfsTer30
XM_011514015.1:c.2709_2710insGTTTTTGAACTATC	XP_011512317.1:p.Arg904ValfsTer30
XM_005248280.3:c.2709_2710insGTTTTTGAACTATC	XP_005248337.1:p.Arg904ValfsTer30
XM_005248282.5:c.2049_2050insGTTTTTGAACTATC	XP_005248339.3:p.Arg684ValfsTer30
XM_006714468.2:c.2709_2710insGTTTTTGAACTATC	XP_006714531.1:p.Arg904ValfsTer30
XM_017009329.1:c.2709_2710insGTTTTTGAACTATC	XP_016864818.1:p.Arg904ValfsTer30
XM_017009330.2:c.1092_1093insGTTTTTGAACTATC	XP_016864819.1:p.Arg365ValfsTer30
XM_017009331.1:c.1495+9487_1495+9488insGTTTTTGAACTATC	XP_016864820.1:n.1495+9487_1495+9488insGT...
NM_133433.4:c.2709_2710insGTTTTTGAACTATC MANE Select	NP_597677.2:p.Arg904ValfsTer30
NM_015384.5:c.2709_2710insGTTTTTGAACTATC	NP_056199.2:p.Arg904ValfsTer30