Canonical Allele Identifier: CA2673552675

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36958236-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958239del , CM000667.2:g.36958239del	GRCh38
NC_000005.9:g.36958341del , CM000667.1:g.36958341del	GRCh37
NC_000005.8:g.36994098del	NCBI36
NG_006987.1:g.86357del
NG_006987.2:g.86357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.358+8del MANE Select	ENSP00000282516.8:n.358+8del
ENST00000652901.1:c.358+8del	ENSP00000499536.1:n.358+8del
ENST00000282516.12:c.358+8del	ENSP00000282516.8:n.358+8del
ENST00000448238.2:c.358+8del	ENSP00000406266.2:n.358+8del
ENST00000505998.5:n.337+8del
ENST00000621733.1:c.-1+81217del	ENSP00000480694.1:n.-1+81217del
NM_015384.4:c.358+8del	NP_056199.2:n.358+8del
NM_133433.3:c.358+8del	NP_597677.2:n.358+8del
XM_005248280.2:c.358+8del	XP_005248337.1:n.358+8del
XM_006714467.2:c.358+8del	XP_006714530.1:n.358+8del
XM_006714468.1:c.358+8del	XP_006714531.1:n.358+8del
XM_011514014.1:c.358+8del	XP_011512316.1:n.358+8del
XM_011514015.1:c.358+8del	XP_011512317.1:n.358+8del
XM_005248280.3:c.358+8del	XP_005248337.1:n.358+8del
XM_006714468.2:c.358+8del	XP_006714531.1:n.358+8del
XM_017009329.1:c.358+8del	XP_016864818.1:n.358+8del
XM_017009331.1:c.358+8del	XP_016864820.1:n.358+8del
NM_133433.4:c.358+8del MANE Select	NP_597677.2:n.358+8del
NM_015384.5:c.358+8del	NP_056199.2:n.358+8del