Canonical Allele Identifier: CA2673574377

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995924-G-GATTGATC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995924_36995925insATTGATC , CM000667.2:g.36995924_36995925insATTGATC	GRCh38
NC_000005.9:g.36996026_36996027insATTGATC , CM000667.1:g.36996026_36996027insATTGATC	GRCh37
NC_000005.8:g.37031783_37031784insATTGATC	NCBI36
NG_006987.1:g.124042_124043insATTGATC
NG_006987.2:g.124042_124043insATTGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+120_3304+121insATTGATC MANE Select	ENSP00000282516.8:n.3304+120_3304+121insATTGATC
ENST00000652901.1:c.3304+120_3304+121insATTGATC	ENSP00000499536.1:n.3304+120_3304+121insATTGATC
ENST00000282516.12:c.3304+120_3304+121insATTGATC	ENSP00000282516.8:n.3304+120_3304+121insATTGATC
ENST00000448238.2:c.3304+120_3304+121insATTGATC	ENSP00000406266.2:n.3304+120_3304+121insATTGATC
ENST00000503274.1:n.655+120_655+121insATTGATC
ENST00000504430.5:n.2924+120_2924+121insATTGATC
ENST00000509429.1:n.55+120_55+121insATTGATC
ENST00000621733.1:c.1-68654_1-68653insATTGATC	ENSP00000480694.1:n.1-68654_1-68653insATTGATC
NM_015384.4:c.3304+120_3304+121insATTGATC	NP_056199.2:n.3304+120_3304+121insATTGATC
NM_133433.3:c.3304+120_3304+121insATTGATC	NP_597677.2:n.3304+120_3304+121insATTGATC
XM_005248280.2:c.3304+120_3304+121insATTGATC	XP_005248337.1:n.3304+120_3304+121insATTGATC
XM_005248282.3:c.2560+120_2560+121insATTGATC	XP_005248339.2:n.2560+120_2560+121insATTGATC
XM_006714467.2:c.3304+120_3304+121insATTGATC	XP_006714530.1:n.3304+120_3304+121insATTGATC
XM_006714468.1:c.3304+120_3304+121insATTGATC	XP_006714531.1:n.3304+120_3304+121insATTGATC
XM_011514014.1:c.3122-4893_3122-4892insATTGATC	XP_011512316.1:n.3122-4893_3122-4892insATTGATC
XM_011514015.1:c.3304+120_3304+121insATTGATC	XP_011512317.1:n.3304+120_3304+121insATTGATC
XM_005248280.3:c.3304+120_3304+121insATTGATC	XP_005248337.1:n.3304+120_3304+121insATTGATC
XM_005248282.5:c.2644+120_2644+121insATTGATC	XP_005248339.3:n.2644+120_2644+121insATTGATC
XM_006714468.2:c.3304+120_3304+121insATTGATC	XP_006714531.1:n.3304+120_3304+121insATTGATC
XM_017009329.1:c.3304+120_3304+121insATTGATC	XP_016864818.1:n.3304+120_3304+121insATTGATC
XM_017009330.2:c.1687+120_1687+121insATTGATC	XP_016864819.1:n.1687+120_1687+121insATTGATC
XM_017009331.1:c.1678+120_1678+121insATTGATC	XP_016864820.1:n.1678+120_1678+121insATTGATC
NM_133433.4:c.3304+120_3304+121insATTGATC MANE Select	NP_597677.2:n.3304+120_3304+121insATTGATC
NM_015384.5:c.3304+120_3304+121insATTGATC	NP_056199.2:n.3304+120_3304+121insATTGATC