Canonical Allele Identifier: CA2739289745

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985790_36985791del , CM000667.2:g.36985790_36985791del	GRCh38
NC_000005.9:g.36985892_36985893del , CM000667.1:g.36985892_36985893del	GRCh37
NC_000005.8:g.37021649_37021650del	NCBI36
NG_006987.1:g.113908_113909del
NG_006987.2:g.113908_113909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2610_2611del MANE Select	ENSP00000282516.8:p.His870GlnfsTer3
ENST00000652901.1:c.2610_2611del	ENSP00000499536.1:p.His870GlnfsTer3
ENST00000282516.12:c.2610_2611del	ENSP00000282516.8:p.His870GlnfsTer3
ENST00000448238.2:c.2610_2611del	ENSP00000406266.2:p.His870GlnfsTer3
ENST00000504430.5:n.2230_2231del
ENST00000621733.1:c.1-78788_1-78787del	ENSP00000480694.1:n.1-78788_1-78787del
NM_015384.4:c.2610_2611del	NP_056199.2:p.His870GlnfsTer3
NM_133433.3:c.2610_2611del	NP_597677.2:p.His870GlnfsTer3
XM_005248280.2:c.2610_2611del	XP_005248337.1:p.His870GlnfsTer3
XM_005248282.3:c.1866_1867del	XP_005248339.2:p.His622GlnfsTer3
XM_006714467.2:c.2610_2611del	XP_006714530.1:p.His870GlnfsTer3
XM_006714468.1:c.2610_2611del	XP_006714531.1:p.His870GlnfsTer3
XM_011514014.1:c.2610_2611del	XP_011512316.1:p.His870GlnfsTer3
XM_011514015.1:c.2610_2611del	XP_011512317.1:p.His870GlnfsTer3
XM_005248280.3:c.2610_2611del	XP_005248337.1:p.His870GlnfsTer3
XM_005248282.5:c.1950_1951del	XP_005248339.3:p.His650GlnfsTer3
XM_006714468.2:c.2610_2611del	XP_006714531.1:p.His870GlnfsTer3
XM_017009329.1:c.2610_2611del	XP_016864818.1:p.His870GlnfsTer3
XM_017009330.2:c.993_994del	XP_016864819.1:p.His331GlnfsTer3
XM_017009331.1:c.1495+9388_1495+9389del	XP_016864820.1:n.1495+9388_1495+9389del
NM_133433.4:c.2610_2611del MANE Select	NP_597677.2:p.His870GlnfsTer3
NM_015384.5:c.2610_2611del	NP_056199.2:p.His870GlnfsTer3