Canonical Allele Identifier: CA2765898353

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020695_37020696dup , CM000667.2:g.37020695_37020696dup	GRCh38
NC_000005.9:g.37020797_37020798dup , CM000667.1:g.37020797_37020798dup	GRCh37
NC_000005.8:g.37056554_37056555dup	NCBI36
NG_006987.1:g.148813_148814dup
NG_006987.2:g.148813_148814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5225+22_5225+23dup MANE Select	ENSP00000282516.8:n.5225+22_5225+23dup
ENST00000652901.1:c.5225+22_5225+23dup	ENSP00000499536.1:n.5225+22_5225+23dup
ENST00000282516.12:c.5225+22_5225+23dup	ENSP00000282516.8:n.5225+22_5225+23dup
ENST00000448238.2:c.5225+22_5225+23dup	ENSP00000406266.2:n.5225+22_5225+23dup
ENST00000621733.1:c.1-43883_1-43882dup	ENSP00000480694.1:n.1-43883_1-43882dup
NM_015384.4:c.5225+22_5225+23dup	NP_056199.2:n.5225+22_5225+23dup
NM_133433.3:c.5225+22_5225+23dup	NP_597677.2:n.5225+22_5225+23dup
XM_005248280.2:c.5225+22_5225+23dup	XP_005248337.1:n.5225+22_5225+23dup
XM_005248282.3:c.4481+22_4481+23dup	XP_005248339.2:n.4481+22_4481+23dup
XM_006714467.2:c.5225+22_5225+23dup	XP_006714530.1:n.5225+22_5225+23dup
XM_006714468.1:c.5027+22_5027+23dup	XP_006714531.1:n.5027+22_5027+23dup
XM_011514014.1:c.4844+22_4844+23dup	XP_011512316.1:n.4844+22_4844+23dup
XM_011514015.1:c.5225+22_5225+23dup	XP_011512317.1:n.5225+22_5225+23dup
XM_005248280.3:c.5225+22_5225+23dup	XP_005248337.1:n.5225+22_5225+23dup
XM_005248282.5:c.4565+22_4565+23dup	XP_005248339.3:n.4565+22_4565+23dup
XM_006714468.2:c.5027+22_5027+23dup	XP_006714531.1:n.5027+22_5027+23dup
XM_017009329.1:c.5225+22_5225+23dup	XP_016864818.1:n.5225+22_5225+23dup
XM_017009330.2:c.3608+22_3608+23dup	XP_016864819.1:n.3608+22_3608+23dup
XM_017009331.1:c.3599+22_3599+23dup	XP_016864820.1:n.3599+22_3599+23dup
NM_133433.4:c.5225+22_5225+23dup MANE Select	NP_597677.2:n.5225+22_5225+23dup
NM_015384.5:c.5225+22_5225+23dup	NP_056199.2:n.5225+22_5225+23dup