Canonical Allele Identifier: CA2695204227

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985767dup , CM000667.2:g.36985767dup	GRCh38
NC_000005.9:g.36985869dup , CM000667.1:g.36985869dup	GRCh37
NC_000005.8:g.37021626dup	NCBI36
NG_006987.1:g.113885dup
NG_006987.2:g.113885dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2587dup MANE Select	ENSP00000282516.8:p.Thr863AsnfsTer2
ENST00000652901.1:c.2587dup	ENSP00000499536.1:p.Thr863AsnfsTer2
ENST00000282516.12:c.2587dup	ENSP00000282516.8:p.Thr863AsnfsTer2
ENST00000448238.2:c.2587dup	ENSP00000406266.2:p.Thr863AsnfsTer2
ENST00000504430.5:n.2207dup
ENST00000621733.1:c.1-78811dup	ENSP00000480694.1:n.1-78811dup
NM_015384.4:c.2587dup	NP_056199.2:p.Thr863AsnfsTer2
NM_133433.3:c.2587dup	NP_597677.2:p.Thr863AsnfsTer2
XM_005248280.2:c.2587dup	XP_005248337.1:p.Thr863AsnfsTer2
XM_005248282.3:c.1843dup	XP_005248339.2:p.Thr615AsnfsTer2
XM_006714467.2:c.2587dup	XP_006714530.1:p.Thr863AsnfsTer2
XM_006714468.1:c.2587dup	XP_006714531.1:p.Thr863AsnfsTer2
XM_011514014.1:c.2587dup	XP_011512316.1:p.Thr863AsnfsTer2
XM_011514015.1:c.2587dup	XP_011512317.1:p.Thr863AsnfsTer2
XM_005248280.3:c.2587dup	XP_005248337.1:p.Thr863AsnfsTer2
XM_005248282.5:c.1927dup	XP_005248339.3:p.Thr643AsnfsTer2
XM_006714468.2:c.2587dup	XP_006714531.1:p.Thr863AsnfsTer2
XM_017009329.1:c.2587dup	XP_016864818.1:p.Thr863AsnfsTer2
XM_017009330.2:c.970dup	XP_016864819.1:p.Thr324AsnfsTer2
XM_017009331.1:c.1495+9365dup	XP_016864820.1:n.1495+9365dup
NM_133433.4:c.2587dup MANE Select	NP_597677.2:p.Thr863AsnfsTer2
NM_015384.5:c.2587dup	NP_056199.2:p.Thr863AsnfsTer2