Canonical Allele Identifier: CA2695204426

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049201_37049202del , CM000667.2:g.37049201_37049202del	GRCh38
NC_000005.9:g.37049303_37049304del , CM000667.1:g.37049303_37049304del	GRCh37
NC_000005.8:g.37085060_37085061del	NCBI36
NG_006987.1:g.177319_177320del
NG_006987.2:g.177319_177320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6854_6855del MANE Select	ENSP00000282516.8:p.Gln2285ArgfsTer3
ENST00000652901.1:c.6854_6855del	ENSP00000499536.1:p.Gln2285ArgfsTer3
ENST00000282516.12:c.6854_6855del	ENSP00000282516.8:p.Gln2285ArgfsTer3
ENST00000448238.2:c.6854_6855del	ENSP00000406266.2:p.Gln2285ArgfsTer3
ENST00000621733.1:c.1-15377_1-15376del	ENSP00000480694.1:n.1-15377_1-15376del
NM_015384.4:c.6854_6855del	NP_056199.2:p.Gln2285ArgfsTer3
NM_133433.3:c.6854_6855del	NP_597677.2:p.Gln2285ArgfsTer3
XM_005248280.2:c.6854_6855del	XP_005248337.1:p.Gln2285ArgfsTer3
XM_005248282.3:c.6110_6111del	XP_005248339.2:p.Gln2037ArgfsTer3
XM_006714467.2:c.6854_6855del	XP_006714530.1:p.Gln2285ArgfsTer3
XM_006714468.1:c.6656_6657del	XP_006714531.1:p.Gln2219ArgfsTer3
XM_011514014.1:c.6473_6474del	XP_011512316.1:p.Gln2158ArgfsTer3
XM_011514015.1:c.6854_6855del	XP_011512317.1:p.Gln2285ArgfsTer3
XM_005248280.3:c.6854_6855del	XP_005248337.1:p.Gln2285ArgfsTer3
XM_005248282.5:c.6194_6195del	XP_005248339.3:p.Gln2065ArgfsTer3
XM_006714468.2:c.6656_6657del	XP_006714531.1:p.Gln2219ArgfsTer3
XM_017009329.1:c.6854_6855del	XP_016864818.1:p.Gln2285ArgfsTer3
XM_017009330.2:c.5237_5238del	XP_016864819.1:p.Gln1746ArgfsTer3
XM_017009331.1:c.5228_5229del	XP_016864820.1:p.Gln1743ArgfsTer3
NM_133433.4:c.6854_6855del MANE Select	NP_597677.2:p.Gln2285ArgfsTer3
NM_015384.5:c.6854_6855del	NP_056199.2:p.Gln2285ArgfsTer3