Canonical Allele Identifier: CA3236455

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37006334_37006344del , CM000667.2:g.37006334_37006344del	GRCh38
NC_000005.9:g.37006436_37006446del , CM000667.1:g.37006436_37006446del	GRCh37
NC_000005.8:g.37042193_37042203del	NCBI36
NG_006987.1:g.134452_134462del
NG_006987.2:g.134452_134462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3856-23_3856-13del MANE Select	ENSP00000282516.8:n.3856-23_3856-13del
ENST00000652901.1:c.3856-23_3856-13del	ENSP00000499536.1:n.3856-23_3856-13del
ENST00000282516.12:c.3856-23_3856-13del	ENSP00000282516.8:n.3856-23_3856-13del
ENST00000448238.2:c.3856-23_3856-13del	ENSP00000406266.2:n.3856-23_3856-13del
ENST00000621733.1:c.1-58244_1-58234del	ENSP00000480694.1:n.1-58244_1-58234del
NM_015384.4:c.3856-23_3856-13del	NP_056199.2:n.3856-23_3856-13del
NM_133433.3:c.3856-23_3856-13del	NP_597677.2:n.3856-23_3856-13del
XM_005248280.2:c.3856-23_3856-13del	XP_005248337.1:n.3856-23_3856-13del
XM_005248282.3:c.3112-23_3112-13del	XP_005248339.2:n.3112-23_3112-13del
XM_006714467.2:c.3856-23_3856-13del	XP_006714530.1:n.3856-23_3856-13del
XM_006714468.1:c.3658-23_3658-13del	XP_006714531.1:n.3658-23_3658-13del
XM_011514014.1:c.3475-23_3475-13del	XP_011512316.1:n.3475-23_3475-13del
XM_011514015.1:c.3856-23_3856-13del	XP_011512317.1:n.3856-23_3856-13del
XM_005248280.3:c.3856-23_3856-13del	XP_005248337.1:n.3856-23_3856-13del
XM_005248282.5:c.3196-23_3196-13del	XP_005248339.3:n.3196-23_3196-13del
XM_006714468.2:c.3658-23_3658-13del	XP_006714531.1:n.3658-23_3658-13del
XM_017009329.1:c.3856-23_3856-13del	XP_016864818.1:n.3856-23_3856-13del
XM_017009330.2:c.2239-23_2239-13del	XP_016864819.1:n.2239-23_2239-13del
XM_017009331.1:c.2230-23_2230-13del	XP_016864820.1:n.2230-23_2230-13del
NM_133433.4:c.3856-23_3856-13del MANE Select	NP_597677.2:n.3856-23_3856-13del
NM_015384.5:c.3856-23_3856-13del	NP_056199.2:n.3856-23_3856-13del