Canonical Allele Identifier: CA1539583090

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986081_36986082delinsCA , CM000667.2:g.36986081_36986082delinsCA	GRCh38
NC_000005.9:g.36986183_36986184delinsCA , CM000667.1:g.36986183_36986184delinsCA	GRCh37
NC_000005.8:g.37021940_37021941delinsCA	NCBI36
NG_006987.1:g.114199_114200delinsCA
NG_006987.2:g.114199_114200delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2901_2902delinsCA MANE Select	ENSP00000282516.8:p.Gly967=
ENST00000652901.1:c.2901_2902delinsCA	ENSP00000499536.1:p.Gly967=
ENST00000282516.12:c.2901_2902delinsCA	ENSP00000282516.8:p.Gly967=
ENST00000448238.2:c.2901_2902delinsCA	ENSP00000406266.2:p.Gly967=
ENST00000504430.5:n.2521_2522delinsCA
ENST00000621733.1:c.1-78497_1-78496delinsCA	ENSP00000480694.1:n.1-78497_1-78496delinsCA
NM_015384.4:c.2901_2902delinsCA	NP_056199.2:p.Gly967=
NM_133433.3:c.2901_2902delinsCA	NP_597677.2:p.Gly967=
XM_005248280.2:c.2901_2902delinsCA	XP_005248337.1:p.Gly967=
XM_005248282.3:c.2157_2158delinsCA	XP_005248339.2:p.Gly719=
XM_006714467.2:c.2901_2902delinsCA	XP_006714530.1:p.Gly967=
XM_006714468.1:c.2901_2902delinsCA	XP_006714531.1:p.Gly967=
XM_011514014.1:c.2901_2902delinsCA	XP_011512316.1:p.Gly967=
XM_011514015.1:c.2901_2902delinsCA	XP_011512317.1:p.Gly967=
XM_005248280.3:c.2901_2902delinsCA	XP_005248337.1:p.Gly967=
XM_005248282.5:c.2241_2242delinsCA	XP_005248339.3:p.Gly747=
XM_006714468.2:c.2901_2902delinsCA	XP_006714531.1:p.Gly967=
XM_017009329.1:c.2901_2902delinsCA	XP_016864818.1:p.Gly967=
XM_017009330.2:c.1284_1285delinsCA	XP_016864819.1:p.Gly428=
XM_017009331.1:c.1496-9541_1496-9540delinsCA	XP_016864820.1:n.1496-9541_1496-9540delinsCA
NM_133433.4:c.2901_2902delinsCA MANE Select	NP_597677.2:p.Gly967=
NM_015384.5:c.2901_2902delinsCA	NP_056199.2:p.Gly967=