Canonical Allele Identifier: CA1539593176

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995905_36995909delinsCTTAA , CM000667.2:g.36995905_36995909delinsCTTAA	GRCh38
NC_000005.9:g.36996007_36996011delinsCTTAA , CM000667.1:g.36996007_36996011delinsCTTAA	GRCh37
NC_000005.8:g.37031764_37031768delinsCTTAA	NCBI36
NG_006987.1:g.124023_124027delinsCTTAA
NG_006987.2:g.124023_124027delinsCTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+101_3304+105delinsCTTAA MANE Select	ENSP00000282516.8:n.3304+101_3304+105delinsCTTAA
ENST00000652901.1:c.3304+101_3304+105delinsCTTAA	ENSP00000499536.1:n.3304+101_3304+105delinsCTTAA
ENST00000282516.12:c.3304+101_3304+105delinsCTTAA	ENSP00000282516.8:n.3304+101_3304+105delinsCTTAA
ENST00000448238.2:c.3304+101_3304+105delinsCTTAA	ENSP00000406266.2:n.3304+101_3304+105delinsCTTAA
ENST00000503274.1:n.655+101_655+105delinsCTTAA
ENST00000504430.5:n.2924+101_2924+105delinsCTTAA
ENST00000509429.1:n.55+101_55+105delinsCTTAA
ENST00000621733.1:c.1-68673_1-68669delinsCTTAA	ENSP00000480694.1:n.1-68673_1-68669delinsCTTAA
NM_015384.4:c.3304+101_3304+105delinsCTTAA	NP_056199.2:n.3304+101_3304+105delinsCTTAA
NM_133433.3:c.3304+101_3304+105delinsCTTAA	NP_597677.2:n.3304+101_3304+105delinsCTTAA
XM_005248280.2:c.3304+101_3304+105delinsCTTAA	XP_005248337.1:n.3304+101_3304+105delinsCTTAA
XM_005248282.3:c.2560+101_2560+105delinsCTTAA	XP_005248339.2:n.2560+101_2560+105delinsCTTAA
XM_006714467.2:c.3304+101_3304+105delinsCTTAA	XP_006714530.1:n.3304+101_3304+105delinsCTTAA
XM_006714468.1:c.3304+101_3304+105delinsCTTAA	XP_006714531.1:n.3304+101_3304+105delinsCTTAA
XM_011514014.1:c.3122-4912_3122-4908delinsCTTAA	XP_011512316.1:n.3122-4912_3122-4908delinsCTTAA
XM_011514015.1:c.3304+101_3304+105delinsCTTAA	XP_011512317.1:n.3304+101_3304+105delinsCTTAA
XM_005248280.3:c.3304+101_3304+105delinsCTTAA	XP_005248337.1:n.3304+101_3304+105delinsCTTAA
XM_005248282.5:c.2644+101_2644+105delinsCTTAA	XP_005248339.3:n.2644+101_2644+105delinsCTTAA
XM_006714468.2:c.3304+101_3304+105delinsCTTAA	XP_006714531.1:n.3304+101_3304+105delinsCTTAA
XM_017009329.1:c.3304+101_3304+105delinsCTTAA	XP_016864818.1:n.3304+101_3304+105delinsCTTAA
XM_017009330.2:c.1687+101_1687+105delinsCTTAA	XP_016864819.1:n.1687+101_1687+105delinsCTTAA
XM_017009331.1:c.1678+101_1678+105delinsCTTAA	XP_016864820.1:n.1678+101_1678+105delinsCTTAA
NM_133433.4:c.3304+101_3304+105delinsCTTAA MANE Select	NP_597677.2:n.3304+101_3304+105delinsCTTAA
NM_015384.5:c.3304+101_3304+105delinsCTTAA	NP_056199.2:n.3304+101_3304+105delinsCTTAA