Canonical Allele Identifier: CA2765898420

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37021009_37021010del , CM000667.2:g.37021009_37021010del	GRCh38
NC_000005.9:g.37021111_37021112del , CM000667.1:g.37021111_37021112del	GRCh37
NC_000005.8:g.37056868_37056869del	NCBI36
NG_006987.1:g.149127_149128del
NG_006987.2:g.149127_149128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5328+132_5328+133del MANE Select	ENSP00000282516.8:n.5328+132_5328+133del
ENST00000652901.1:c.5328+132_5328+133del	ENSP00000499536.1:n.5328+132_5328+133del
ENST00000282516.12:c.5328+132_5328+133del	ENSP00000282516.8:n.5328+132_5328+133del
ENST00000448238.2:c.5328+132_5328+133del	ENSP00000406266.2:n.5328+132_5328+133del
ENST00000621733.1:c.1-43569_1-43568del	ENSP00000480694.1:n.1-43569_1-43568del
NM_015384.4:c.5328+132_5328+133del	NP_056199.2:n.5328+132_5328+133del
NM_133433.3:c.5328+132_5328+133del	NP_597677.2:n.5328+132_5328+133del
XM_005248280.2:c.5328+132_5328+133del	XP_005248337.1:n.5328+132_5328+133del
XM_005248282.3:c.4584+132_4584+133del	XP_005248339.2:n.4584+132_4584+133del
XM_006714467.2:c.5328+132_5328+133del	XP_006714530.1:n.5328+132_5328+133del
XM_006714468.1:c.5130+132_5130+133del	XP_006714531.1:n.5130+132_5130+133del
XM_011514014.1:c.4947+132_4947+133del	XP_011512316.1:n.4947+132_4947+133del
XM_011514015.1:c.5328+132_5328+133del	XP_011512317.1:n.5328+132_5328+133del
XM_005248280.3:c.5328+132_5328+133del	XP_005248337.1:n.5328+132_5328+133del
XM_005248282.5:c.4668+132_4668+133del	XP_005248339.3:n.4668+132_4668+133del
XM_006714468.2:c.5130+132_5130+133del	XP_006714531.1:n.5130+132_5130+133del
XM_017009329.1:c.5328+132_5328+133del	XP_016864818.1:n.5328+132_5328+133del
XM_017009330.2:c.3711+132_3711+133del	XP_016864819.1:n.3711+132_3711+133del
XM_017009331.1:c.3702+132_3702+133del	XP_016864820.1:n.3702+132_3702+133del
NM_133433.4:c.5328+132_5328+133del MANE Select	NP_597677.2:n.5328+132_5328+133del
NM_015384.5:c.5328+132_5328+133del	NP_056199.2:n.5328+132_5328+133del