Canonical Allele Identifier: CA645546381

Gene: NIPBL

Linked Data

• COSMIC: COSM4187654 ; COSM4187655

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049278_37049285del , CM000667.2:g.37049278_37049285del	GRCh38
NC_000005.9:g.37049380_37049387del , CM000667.1:g.37049380_37049387del	GRCh37
NC_000005.8:g.37085137_37085144del	NCBI36
NG_006987.1:g.177396_177403del
NG_006987.2:g.177396_177403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6931_6938del MANE Select	ENSP00000282516.8:p.Gln2311TyrfsTer26
ENST00000652901.1:c.6931_6938del	ENSP00000499536.1:p.Gln2311TyrfsTer26
ENST00000282516.12:c.6931_6938del	ENSP00000282516.8:p.Gln2311TyrfsTer26
ENST00000448238.2:c.6931_6938del	ENSP00000406266.2:p.Gln2311TyrfsTer26
ENST00000621733.1:c.1-15300_1-15293del	ENSP00000480694.1:n.1-15300_1-15293del
NM_015384.4:c.6931_6938del	NP_056199.2:p.Gln2311TyrfsTer26
NM_133433.3:c.6931_6938del	NP_597677.2:p.Gln2311TyrfsTer26
XM_005248280.2:c.6931_6938del	XP_005248337.1:p.Gln2311TyrfsTer26
XM_005248282.3:c.6187_6194del	XP_005248339.2:p.Gln2063TyrfsTer26
XM_006714467.2:c.6931_6938del	XP_006714530.1:p.Gln2311TyrfsTer26
XM_006714468.1:c.6733_6740del	XP_006714531.1:p.Gln2245TyrfsTer26
XM_011514014.1:c.6550_6557del	XP_011512316.1:p.Gln2184TyrfsTer26
XM_011514015.1:c.6931_6938del	XP_011512317.1:p.Gln2311TyrfsTer26
XM_005248280.3:c.6931_6938del	XP_005248337.1:p.Gln2311TyrfsTer26
XM_005248282.5:c.6271_6278del	XP_005248339.3:p.Gln2091TyrfsTer26
XM_006714468.2:c.6733_6740del	XP_006714531.1:p.Gln2245TyrfsTer26
XM_017009329.1:c.6931_6938del	XP_016864818.1:p.Gln2311TyrfsTer26
XM_017009330.2:c.5314_5321del	XP_016864819.1:p.Gln1772TyrfsTer26
XM_017009331.1:c.5305_5312del	XP_016864820.1:p.Gln1769TyrfsTer26
NM_133433.4:c.6931_6938del MANE Select	NP_597677.2:p.Gln2311TyrfsTer26
NM_015384.5:c.6931_6938del	NP_056199.2:p.Gln2311TyrfsTer26