Canonical Allele Identifier: CA2673553848

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37021002-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37021007del , CM000667.2:g.37021007del	GRCh38
NC_000005.9:g.37021109del , CM000667.1:g.37021109del	GRCh37
NC_000005.8:g.37056866del	NCBI36
NG_006987.1:g.149125del
NG_006987.2:g.149125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5328+130del MANE Select	ENSP00000282516.8:n.5328+130del
ENST00000652901.1:c.5328+130del	ENSP00000499536.1:n.5328+130del
ENST00000282516.12:c.5328+130del	ENSP00000282516.8:n.5328+130del
ENST00000448238.2:c.5328+130del	ENSP00000406266.2:n.5328+130del
ENST00000621733.1:c.1-43571del	ENSP00000480694.1:n.1-43571del
NM_015384.4:c.5328+130del	NP_056199.2:n.5328+130del
NM_133433.3:c.5328+130del	NP_597677.2:n.5328+130del
XM_005248280.2:c.5328+130del	XP_005248337.1:n.5328+130del
XM_005248282.3:c.4584+130del	XP_005248339.2:n.4584+130del
XM_006714467.2:c.5328+130del	XP_006714530.1:n.5328+130del
XM_006714468.1:c.5130+130del	XP_006714531.1:n.5130+130del
XM_011514014.1:c.4947+130del	XP_011512316.1:n.4947+130del
XM_011514015.1:c.5328+130del	XP_011512317.1:n.5328+130del
XM_005248280.3:c.5328+130del	XP_005248337.1:n.5328+130del
XM_005248282.5:c.4668+130del	XP_005248339.3:n.4668+130del
XM_006714468.2:c.5130+130del	XP_006714531.1:n.5130+130del
XM_017009329.1:c.5328+130del	XP_016864818.1:n.5328+130del
XM_017009330.2:c.3711+130del	XP_016864819.1:n.3711+130del
XM_017009331.1:c.3702+130del	XP_016864820.1:n.3702+130del
NM_133433.4:c.5328+130del MANE Select	NP_597677.2:n.5328+130del
NM_015384.5:c.5328+130del	NP_056199.2:n.5328+130del