Canonical Allele Identifier: CA1539568656

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975548_36975554delinsCATACTT , CM000667.2:g.36975548_36975554delinsCATACTT	GRCh38
NC_000005.9:g.36975650_36975656delinsCATACTT , CM000667.1:g.36975650_36975656delinsCATACTT	GRCh37
NC_000005.8:g.37011407_37011413delinsCATACTT	NCBI36
NG_006987.1:g.103666_103672delinsCATACTT
NG_006987.2:g.103666_103672delinsCATACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.869-228_869-222delinsCATACTT MANE Select	ENSP00000282516.8:n.869-228_869-222delinsCATACTT
ENST00000652901.1:c.869-228_869-222delinsCATACTT	ENSP00000499536.1:n.869-228_869-222delinsCATACTT
ENST00000282516.12:c.869-228_869-222delinsCATACTT	ENSP00000282516.8:n.869-228_869-222delinsCATACTT
ENST00000448238.2:c.869-228_869-222delinsCATACTT	ENSP00000406266.2:n.869-228_869-222delinsCATACTT
ENST00000504430.5:n.489-228_489-222delinsCATACTT
ENST00000505998.5:n.848-228_848-222delinsCATACTT
ENST00000621733.1:c.1-89030_1-89024delinsCATACTT	ENSP00000480694.1:n.1-89030_1-89024delinsCATACTT
NM_015384.4:c.869-228_869-222delinsCATACTT	NP_056199.2:n.869-228_869-222delinsCATACTT
NM_133433.3:c.869-228_869-222delinsCATACTT	NP_597677.2:n.869-228_869-222delinsCATACTT
XM_005248280.2:c.869-228_869-222delinsCATACTT	XP_005248337.1:n.869-228_869-222delinsCATACTT
XM_005248282.3:c.125-228_125-222delinsCATACTT	XP_005248339.2:n.125-228_125-222delinsCATACTT
XM_006714467.2:c.869-228_869-222delinsCATACTT	XP_006714530.1:n.869-228_869-222delinsCATACTT
XM_006714468.1:c.869-228_869-222delinsCATACTT	XP_006714531.1:n.869-228_869-222delinsCATACTT
XM_011514014.1:c.869-228_869-222delinsCATACTT	XP_011512316.1:n.869-228_869-222delinsCATACTT
XM_011514015.1:c.869-228_869-222delinsCATACTT	XP_011512317.1:n.869-228_869-222delinsCATACTT
XM_005248280.3:c.869-228_869-222delinsCATACTT	XP_005248337.1:n.869-228_869-222delinsCATACTT
XM_005248282.5:c.209-228_209-222delinsCATACTT	XP_005248339.3:n.209-228_209-222delinsCATACTT
XM_006714468.2:c.869-228_869-222delinsCATACTT	XP_006714531.1:n.869-228_869-222delinsCATACTT
XM_017009329.1:c.869-228_869-222delinsCATACTT	XP_016864818.1:n.869-228_869-222delinsCATACTT
XM_017009331.1:c.869-228_869-222delinsCATACTT	XP_016864820.1:n.869-228_869-222delinsCATACTT
NM_133433.4:c.869-228_869-222delinsCATACTT MANE Select	NP_597677.2:n.869-228_869-222delinsCATACTT
NM_015384.5:c.869-228_869-222delinsCATACTT	NP_056199.2:n.869-228_869-222delinsCATACTT