Canonical Allele Identifier: CA2765898350

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020692_37020693insGATC , CM000667.2:g.37020692_37020693insGATC	GRCh38
NC_000005.9:g.37020794_37020795insGATC , CM000667.1:g.37020794_37020795insGATC	GRCh37
NC_000005.8:g.37056551_37056552insGATC	NCBI36
NG_006987.1:g.148810_148811insGATC
NG_006987.2:g.148810_148811insGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5225+19_5225+20insGATC MANE Select	ENSP00000282516.8:n.5225+19_5225+20insGATC
ENST00000652901.1:c.5225+19_5225+20insGATC	ENSP00000499536.1:n.5225+19_5225+20insGATC
ENST00000282516.12:c.5225+19_5225+20insGATC	ENSP00000282516.8:n.5225+19_5225+20insGATC
ENST00000448238.2:c.5225+19_5225+20insGATC	ENSP00000406266.2:n.5225+19_5225+20insGATC
ENST00000621733.1:c.1-43886_1-43885insGATC	ENSP00000480694.1:n.1-43886_1-43885insGATC
NM_015384.4:c.5225+19_5225+20insGATC	NP_056199.2:n.5225+19_5225+20insGATC
NM_133433.3:c.5225+19_5225+20insGATC	NP_597677.2:n.5225+19_5225+20insGATC
XM_005248280.2:c.5225+19_5225+20insGATC	XP_005248337.1:n.5225+19_5225+20insGATC
XM_005248282.3:c.4481+19_4481+20insGATC	XP_005248339.2:n.4481+19_4481+20insGATC
XM_006714467.2:c.5225+19_5225+20insGATC	XP_006714530.1:n.5225+19_5225+20insGATC
XM_006714468.1:c.5027+19_5027+20insGATC	XP_006714531.1:n.5027+19_5027+20insGATC
XM_011514014.1:c.4844+19_4844+20insGATC	XP_011512316.1:n.4844+19_4844+20insGATC
XM_011514015.1:c.5225+19_5225+20insGATC	XP_011512317.1:n.5225+19_5225+20insGATC
XM_005248280.3:c.5225+19_5225+20insGATC	XP_005248337.1:n.5225+19_5225+20insGATC
XM_005248282.5:c.4565+19_4565+20insGATC	XP_005248339.3:n.4565+19_4565+20insGATC
XM_006714468.2:c.5027+19_5027+20insGATC	XP_006714531.1:n.5027+19_5027+20insGATC
XM_017009329.1:c.5225+19_5225+20insGATC	XP_016864818.1:n.5225+19_5225+20insGATC
XM_017009330.2:c.3608+19_3608+20insGATC	XP_016864819.1:n.3608+19_3608+20insGATC
XM_017009331.1:c.3599+19_3599+20insGATC	XP_016864820.1:n.3599+19_3599+20insGATC
NM_133433.4:c.5225+19_5225+20insGATC MANE Select	NP_597677.2:n.5225+19_5225+20insGATC
NM_015384.5:c.5225+19_5225+20insGATC	NP_056199.2:n.5225+19_5225+20insGATC