Canonical Allele Identifier: CA1539619082

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020390_37020396delinsCTAACTT , CM000667.2:g.37020390_37020396delinsCTAACTT	GRCh38
NC_000005.9:g.37020492_37020498delinsCTAACTT , CM000667.1:g.37020492_37020498delinsCTAACTT	GRCh37
NC_000005.8:g.37056249_37056255delinsCTAACTT	NCBI36
NG_006987.1:g.148508_148514delinsCTAACTT
NG_006987.2:g.148508_148514delinsCTAACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-69_5011-63delinsCTAACTT MANE Select	ENSP00000282516.8:n.5011-69_5011-63delinsCTAACTT
ENST00000652901.1:c.5011-69_5011-63delinsCTAACTT	ENSP00000499536.1:n.5011-69_5011-63delinsCTAACTT
ENST00000282516.12:c.5011-69_5011-63delinsCTAACTT	ENSP00000282516.8:n.5011-69_5011-63delinsCTAACTT
ENST00000448238.2:c.5011-69_5011-63delinsCTAACTT	ENSP00000406266.2:n.5011-69_5011-63delinsCTAACTT
ENST00000621733.1:c.1-44188_1-44182delinsCTAACTT	ENSP00000480694.1:n.1-44188_1-44182delinsCTAACTT
NM_015384.4:c.5011-69_5011-63delinsCTAACTT	NP_056199.2:n.5011-69_5011-63delinsCTAACTT
NM_133433.3:c.5011-69_5011-63delinsCTAACTT	NP_597677.2:n.5011-69_5011-63delinsCTAACTT
XM_005248280.2:c.5011-69_5011-63delinsCTAACTT	XP_005248337.1:n.5011-69_5011-63delinsCTAACTT
XM_005248282.3:c.4267-69_4267-63delinsCTAACTT	XP_005248339.2:n.4267-69_4267-63delinsCTAACTT
XM_006714467.2:c.5011-69_5011-63delinsCTAACTT	XP_006714530.1:n.5011-69_5011-63delinsCTAACTT
XM_006714468.1:c.4813-69_4813-63delinsCTAACTT	XP_006714531.1:n.4813-69_4813-63delinsCTAACTT
XM_011514014.1:c.4630-69_4630-63delinsCTAACTT	XP_011512316.1:n.4630-69_4630-63delinsCTAACTT
XM_011514015.1:c.5011-69_5011-63delinsCTAACTT	XP_011512317.1:n.5011-69_5011-63delinsCTAACTT
XM_005248280.3:c.5011-69_5011-63delinsCTAACTT	XP_005248337.1:n.5011-69_5011-63delinsCTAACTT
XM_005248282.5:c.4351-69_4351-63delinsCTAACTT	XP_005248339.3:n.4351-69_4351-63delinsCTAACTT
XM_006714468.2:c.4813-69_4813-63delinsCTAACTT	XP_006714531.1:n.4813-69_4813-63delinsCTAACTT
XM_017009329.1:c.5011-69_5011-63delinsCTAACTT	XP_016864818.1:n.5011-69_5011-63delinsCTAACTT
XM_017009330.2:c.3394-69_3394-63delinsCTAACTT	XP_016864819.1:n.3394-69_3394-63delinsCTAACTT
XM_017009331.1:c.3385-69_3385-63delinsCTAACTT	XP_016864820.1:n.3385-69_3385-63delinsCTAACTT
NM_133433.4:c.5011-69_5011-63delinsCTAACTT MANE Select	NP_597677.2:n.5011-69_5011-63delinsCTAACTT
NM_015384.5:c.5011-69_5011-63delinsCTAACTT	NP_056199.2:n.5011-69_5011-63delinsCTAACTT