Canonical Allele Identifier: CA2765898208

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995894_36995895insACCCCCCAAACACACCCA , CM000667.2:g.36995894_36995895insACCCCCCAAACACACCCA	GRCh38
NC_000005.9:g.36995996_36995997insACCCCCCAAACACACCCA , CM000667.1:g.36995996_36995997insACCCCCCAAACACACCCA	GRCh37
NC_000005.8:g.37031753_37031754insACCCCCCAAACACACCCA	NCBI36
NG_006987.1:g.124012_124013insACCCCCCAAACACACCCA
NG_006987.2:g.124012_124013insACCCCCCAAACACACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+90_3304+91insACCCCCCAAACACACCCA MANE Select	ENSP00000282516.8:n.3304+90_3304+91insACCCCCCAAACACACCCA
ENST00000652901.1:c.3304+90_3304+91insACCCCCCAAACACACCCA	ENSP00000499536.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
ENST00000282516.12:c.3304+90_3304+91insACCCCCCAAACACACCCA	ENSP00000282516.8:n.3304+90_3304+91insACCCCCCAAACACACCCA
ENST00000448238.2:c.3304+90_3304+91insACCCCCCAAACACACCCA	ENSP00000406266.2:n.3304+90_3304+91insACCCCCCAAACACACCCA
ENST00000503274.1:n.655+90_655+91insACCCCCCAAACACACCCA
ENST00000504430.5:n.2924+90_2924+91insACCCCCCAAACACACCCA
ENST00000509429.1:n.55+90_55+91insACCCCCCAAACACACCCA
ENST00000621733.1:c.1-68684_1-68683insACCCCCCAAACACACCCA	ENSP00000480694.1:n.1-68684_1-68683insACCCCCCAAACACACCCA
NM_015384.4:c.3304+90_3304+91insACCCCCCAAACACACCCA	NP_056199.2:n.3304+90_3304+91insACCCCCCAAACACACCCA
NM_133433.3:c.3304+90_3304+91insACCCCCCAAACACACCCA	NP_597677.2:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_005248280.2:c.3304+90_3304+91insACCCCCCAAACACACCCA	XP_005248337.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_005248282.3:c.2560+90_2560+91insACCCCCCAAACACACCCA	XP_005248339.2:n.2560+90_2560+91insACCCCCCAAACACACCCA
XM_006714467.2:c.3304+90_3304+91insACCCCCCAAACACACCCA	XP_006714530.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_006714468.1:c.3304+90_3304+91insACCCCCCAAACACACCCA	XP_006714531.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_011514014.1:c.3122-4923_3122-4922insACCCCCCAAACACACCCA	XP_011512316.1:n.3122-4923_3122-4922insACCCCCCAAACACACCCA
XM_011514015.1:c.3304+90_3304+91insACCCCCCAAACACACCCA	XP_011512317.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_005248280.3:c.3304+90_3304+91insACCCCCCAAACACACCCA	XP_005248337.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_005248282.5:c.2644+90_2644+91insACCCCCCAAACACACCCA	XP_005248339.3:n.2644+90_2644+91insACCCCCCAAACACACCCA
XM_006714468.2:c.3304+90_3304+91insACCCCCCAAACACACCCA	XP_006714531.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_017009329.1:c.3304+90_3304+91insACCCCCCAAACACACCCA	XP_016864818.1:n.3304+90_3304+91insACCCCCCAAACACACCCA
XM_017009330.2:c.1687+90_1687+91insACCCCCCAAACACACCCA	XP_016864819.1:n.1687+90_1687+91insACCCCCCAAACACACCCA
XM_017009331.1:c.1678+90_1678+91insACCCCCCAAACACACCCA	XP_016864820.1:n.1678+90_1678+91insACCCCCCAAACACACCCA
NM_133433.4:c.3304+90_3304+91insACCCCCCAAACACACCCA MANE Select	NP_597677.2:n.3304+90_3304+91insACCCCCCAAACACACCCA
NM_015384.5:c.3304+90_3304+91insACCCCCCAAACACACCCA	NP_056199.2:n.3304+90_3304+91insACCCCCCAAACACACCCA