Canonical Allele Identifier: CA2739289746

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986064_36986065del , CM000667.2:g.36986064_36986065del	GRCh38
NC_000005.9:g.36986166_36986167del , CM000667.1:g.36986166_36986167del	GRCh37
NC_000005.8:g.37021923_37021924del	NCBI36
NG_006987.1:g.114182_114183del
NG_006987.2:g.114182_114183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2884_2885del MANE Select	ENSP00000282516.8:p.Lys962GlufsTer3
ENST00000652901.1:c.2884_2885del	ENSP00000499536.1:p.Lys962GlufsTer3
ENST00000282516.12:c.2884_2885del	ENSP00000282516.8:p.Lys962GlufsTer3
ENST00000448238.2:c.2884_2885del	ENSP00000406266.2:p.Lys962GlufsTer3
ENST00000504430.5:n.2504_2505del
ENST00000621733.1:c.1-78514_1-78513del	ENSP00000480694.1:n.1-78514_1-78513del
NM_015384.4:c.2884_2885del	NP_056199.2:p.Lys962GlufsTer3
NM_133433.3:c.2884_2885del	NP_597677.2:p.Lys962GlufsTer3
XM_005248280.2:c.2884_2885del	XP_005248337.1:p.Lys962GlufsTer3
XM_005248282.3:c.2140_2141del	XP_005248339.2:p.Lys714GlufsTer3
XM_006714467.2:c.2884_2885del	XP_006714530.1:p.Lys962GlufsTer3
XM_006714468.1:c.2884_2885del	XP_006714531.1:p.Lys962GlufsTer3
XM_011514014.1:c.2884_2885del	XP_011512316.1:p.Lys962GlufsTer3
XM_011514015.1:c.2884_2885del	XP_011512317.1:p.Lys962GlufsTer3
XM_005248280.3:c.2884_2885del	XP_005248337.1:p.Lys962GlufsTer3
XM_005248282.5:c.2224_2225del	XP_005248339.3:p.Lys742GlufsTer3
XM_006714468.2:c.2884_2885del	XP_006714531.1:p.Lys962GlufsTer3
XM_017009329.1:c.2884_2885del	XP_016864818.1:p.Lys962GlufsTer3
XM_017009330.2:c.1267_1268del	XP_016864819.1:p.Lys423GlufsTer3
XM_017009331.1:c.1496-9558_1496-9557del	XP_016864820.1:n.1496-9558_1496-9557del
NM_133433.4:c.2884_2885del MANE Select	NP_597677.2:p.Lys962GlufsTer3
NM_015384.5:c.2884_2885del	NP_056199.2:p.Lys962GlufsTer3