Canonical Allele Identifier: CA2673574348

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995891-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995891_36995892insC , CM000667.2:g.36995891_36995892insC	GRCh38
NC_000005.9:g.36995993_36995994insC , CM000667.1:g.36995993_36995994insC	GRCh37
NC_000005.8:g.37031750_37031751insC	NCBI36
NG_006987.1:g.124009_124010insC
NG_006987.2:g.124009_124010insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+87_3304+88insC MANE Select	ENSP00000282516.8:n.3304+87_3304+88insC
ENST00000652901.1:c.3304+87_3304+88insC	ENSP00000499536.1:n.3304+87_3304+88insC
ENST00000282516.12:c.3304+87_3304+88insC	ENSP00000282516.8:n.3304+87_3304+88insC
ENST00000448238.2:c.3304+87_3304+88insC	ENSP00000406266.2:n.3304+87_3304+88insC
ENST00000503274.1:n.655+87_655+88insC
ENST00000504430.5:n.2924+87_2924+88insC
ENST00000509429.1:n.55+87_55+88insC
ENST00000621733.1:c.1-68687_1-68686insC	ENSP00000480694.1:n.1-68687_1-68686insC
NM_015384.4:c.3304+87_3304+88insC	NP_056199.2:n.3304+87_3304+88insC
NM_133433.3:c.3304+87_3304+88insC	NP_597677.2:n.3304+87_3304+88insC
XM_005248280.2:c.3304+87_3304+88insC	XP_005248337.1:n.3304+87_3304+88insC
XM_005248282.3:c.2560+87_2560+88insC	XP_005248339.2:n.2560+87_2560+88insC
XM_006714467.2:c.3304+87_3304+88insC	XP_006714530.1:n.3304+87_3304+88insC
XM_006714468.1:c.3304+87_3304+88insC	XP_006714531.1:n.3304+87_3304+88insC
XM_011514014.1:c.3122-4926_3122-4925insC	XP_011512316.1:n.3122-4926_3122-4925insC
XM_011514015.1:c.3304+87_3304+88insC	XP_011512317.1:n.3304+87_3304+88insC
XM_005248280.3:c.3304+87_3304+88insC	XP_005248337.1:n.3304+87_3304+88insC
XM_005248282.5:c.2644+87_2644+88insC	XP_005248339.3:n.2644+87_2644+88insC
XM_006714468.2:c.3304+87_3304+88insC	XP_006714531.1:n.3304+87_3304+88insC
XM_017009329.1:c.3304+87_3304+88insC	XP_016864818.1:n.3304+87_3304+88insC
XM_017009330.2:c.1687+87_1687+88insC	XP_016864819.1:n.1687+87_1687+88insC
XM_017009331.1:c.1678+87_1678+88insC	XP_016864820.1:n.1678+87_1678+88insC
NM_133433.4:c.3304+87_3304+88insC MANE Select	NP_597677.2:n.3304+87_3304+88insC
NM_015384.5:c.3304+87_3304+88insC	NP_056199.2:n.3304+87_3304+88insC