Canonical Allele Identifier: CA2578289859

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052350-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052354del , CM000667.2:g.37052354del	GRCh38
NC_000005.9:g.37052456del , CM000667.1:g.37052456del	GRCh37
NC_000005.8:g.37088213del	NCBI36
NG_006987.1:g.180472del
NG_006987.2:g.180472del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7063-12del MANE Select	ENSP00000282516.8:n.7063-12del
ENST00000652901.1:c.7063-12del	ENSP00000499536.1:n.7063-12del
ENST00000282516.12:c.7063-12del	ENSP00000282516.8:n.7063-12del
ENST00000448238.2:c.7063-12del	ENSP00000406266.2:n.7063-12del
ENST00000514335.1:n.945-12del
ENST00000621733.1:c.1-12224del	ENSP00000480694.1:n.1-12224del
NM_015384.4:c.7063-12del	NP_056199.2:n.7063-12del
NM_133433.3:c.7063-12del	NP_597677.2:n.7063-12del
XM_005248280.2:c.7063-12del	XP_005248337.1:n.7063-12del
XM_005248282.3:c.6319-12del	XP_005248339.2:n.6319-12del
XM_006714467.2:c.7063-12del	XP_006714530.1:n.7063-12del
XM_006714468.1:c.6865-12del	XP_006714531.1:n.6865-12del
XM_011514014.1:c.6682-12del	XP_011512316.1:n.6682-12del
XM_011514015.1:c.7063-12del	XP_011512317.1:n.7063-12del
XM_005248280.3:c.7063-12del	XP_005248337.1:n.7063-12del
XM_005248282.5:c.6403-12del	XP_005248339.3:n.6403-12del
XM_006714468.2:c.6865-12del	XP_006714531.1:n.6865-12del
XM_017009329.1:c.7063-12del	XP_016864818.1:n.7063-12del
XM_017009330.2:c.5446-12del	XP_016864819.1:n.5446-12del
XM_017009331.1:c.5437-12del	XP_016864820.1:n.5437-12del
NM_133433.4:c.7063-12del MANE Select	NP_597677.2:n.7063-12del
NM_015384.5:c.7063-12del	NP_056199.2:n.7063-12del