Canonical Allele Identifier: CA2695204231

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985914_36985918dup , CM000667.2:g.36985914_36985918dup	GRCh38
NC_000005.9:g.36986016_36986020dup , CM000667.1:g.36986016_36986020dup	GRCh37
NC_000005.8:g.37021773_37021777dup	NCBI36
NG_006987.1:g.114032_114036dup
NG_006987.2:g.114032_114036dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2734_2738dup MANE Select	ENSP00000282516.8:p.Thr914HisfsTer17
ENST00000652901.1:c.2734_2738dup	ENSP00000499536.1:p.Thr914HisfsTer17
ENST00000282516.12:c.2734_2738dup	ENSP00000282516.8:p.Thr914HisfsTer17
ENST00000448238.2:c.2734_2738dup	ENSP00000406266.2:p.Thr914HisfsTer17
ENST00000504430.5:n.2354_2358dup
ENST00000621733.1:c.1-78664_1-78660dup	ENSP00000480694.1:n.1-78664_1-78660dup
NM_015384.4:c.2734_2738dup	NP_056199.2:p.Thr914HisfsTer17
NM_133433.3:c.2734_2738dup	NP_597677.2:p.Thr914HisfsTer17
XM_005248280.2:c.2734_2738dup	XP_005248337.1:p.Thr914HisfsTer17
XM_005248282.3:c.1990_1994dup	XP_005248339.2:p.Thr666HisfsTer17
XM_006714467.2:c.2734_2738dup	XP_006714530.1:p.Thr914HisfsTer17
XM_006714468.1:c.2734_2738dup	XP_006714531.1:p.Thr914HisfsTer17
XM_011514014.1:c.2734_2738dup	XP_011512316.1:p.Thr914HisfsTer17
XM_011514015.1:c.2734_2738dup	XP_011512317.1:p.Thr914HisfsTer17
XM_005248280.3:c.2734_2738dup	XP_005248337.1:p.Thr914HisfsTer17
XM_005248282.5:c.2074_2078dup	XP_005248339.3:p.Thr694HisfsTer17
XM_006714468.2:c.2734_2738dup	XP_006714531.1:p.Thr914HisfsTer17
XM_017009329.1:c.2734_2738dup	XP_016864818.1:p.Thr914HisfsTer17
XM_017009330.2:c.1117_1121dup	XP_016864819.1:p.Thr375HisfsTer17
XM_017009331.1:c.1495+9512_1495+9516dup	XP_016864820.1:n.1495+9512_1495+9516dup
NM_133433.4:c.2734_2738dup MANE Select	NP_597677.2:p.Thr914HisfsTer17
NM_015384.5:c.2734_2738dup	NP_056199.2:p.Thr914HisfsTer17