Canonical Allele Identifier: CA2673575748

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052274-TGAAGCTAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052275_37052283del , CM000667.2:g.37052275_37052283del	GRCh38
NC_000005.9:g.37052377_37052385del , CM000667.1:g.37052377_37052385del	GRCh37
NC_000005.8:g.37088134_37088142del	NCBI36
NG_006987.1:g.180393_180401del
NG_006987.2:g.180393_180401del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7063-91_7063-83del MANE Select	ENSP00000282516.8:n.7063-91_7063-83del
ENST00000652901.1:c.7063-91_7063-83del	ENSP00000499536.1:n.7063-91_7063-83del
ENST00000282516.12:c.7063-91_7063-83del	ENSP00000282516.8:n.7063-91_7063-83del
ENST00000448238.2:c.7063-91_7063-83del	ENSP00000406266.2:n.7063-91_7063-83del
ENST00000514335.1:n.945-91_945-83del
ENST00000621733.1:c.1-12303_1-12295del	ENSP00000480694.1:n.1-12303_1-12295del
NM_015384.4:c.7063-91_7063-83del	NP_056199.2:n.7063-91_7063-83del
NM_133433.3:c.7063-91_7063-83del	NP_597677.2:n.7063-91_7063-83del
XM_005248280.2:c.7063-91_7063-83del	XP_005248337.1:n.7063-91_7063-83del
XM_005248282.3:c.6319-91_6319-83del	XP_005248339.2:n.6319-91_6319-83del
XM_006714467.2:c.7063-91_7063-83del	XP_006714530.1:n.7063-91_7063-83del
XM_006714468.1:c.6865-91_6865-83del	XP_006714531.1:n.6865-91_6865-83del
XM_011514014.1:c.6682-91_6682-83del	XP_011512316.1:n.6682-91_6682-83del
XM_011514015.1:c.7063-91_7063-83del	XP_011512317.1:n.7063-91_7063-83del
XM_005248280.3:c.7063-91_7063-83del	XP_005248337.1:n.7063-91_7063-83del
XM_005248282.5:c.6403-91_6403-83del	XP_005248339.3:n.6403-91_6403-83del
XM_006714468.2:c.6865-91_6865-83del	XP_006714531.1:n.6865-91_6865-83del
XM_017009329.1:c.7063-91_7063-83del	XP_016864818.1:n.7063-91_7063-83del
XM_017009330.2:c.5446-91_5446-83del	XP_016864819.1:n.5446-91_5446-83del
XM_017009331.1:c.5437-91_5437-83del	XP_016864820.1:n.5437-91_5437-83del
NM_133433.4:c.7063-91_7063-83del MANE Select	NP_597677.2:n.7063-91_7063-83del
NM_015384.5:c.7063-91_7063-83del	NP_056199.2:n.7063-91_7063-83del