Canonical Allele Identifier: CA1539611384

Gene: NIPBL

Linked Data

• dbSNP Id: rs1751966866
• gnomAD v4: 5-37038467-AACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038472_37038474del , CM000667.2:g.37038472_37038474del	GRCh38
NC_000005.9:g.37038574_37038576del , CM000667.1:g.37038574_37038576del	GRCh37
NC_000005.8:g.37074331_37074333del	NCBI36
NG_006987.1:g.166590_166592del
NG_006987.2:g.166590_166592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-130_5972-128del MANE Select	ENSP00000282516.8:n.5972-130_5972-128del
ENST00000652901.1:c.5972-130_5972-128del	ENSP00000499536.1:n.5972-130_5972-128del
ENST00000282516.12:c.5972-130_5972-128del	ENSP00000282516.8:n.5972-130_5972-128del
ENST00000448238.2:c.5972-130_5972-128del	ENSP00000406266.2:n.5972-130_5972-128del
ENST00000621733.1:c.1-26106_1-26104del	ENSP00000480694.1:n.1-26106_1-26104del
NM_015384.4:c.5972-130_5972-128del	NP_056199.2:n.5972-130_5972-128del
NM_133433.3:c.5972-130_5972-128del	NP_597677.2:n.5972-130_5972-128del
XM_005248280.2:c.5972-130_5972-128del	XP_005248337.1:n.5972-130_5972-128del
XM_005248282.3:c.5228-130_5228-128del	XP_005248339.2:n.5228-130_5228-128del
XM_006714467.2:c.5972-130_5972-128del	XP_006714530.1:n.5972-130_5972-128del
XM_006714468.1:c.5774-130_5774-128del	XP_006714531.1:n.5774-130_5774-128del
XM_011514014.1:c.5591-130_5591-128del	XP_011512316.1:n.5591-130_5591-128del
XM_011514015.1:c.5972-130_5972-128del	XP_011512317.1:n.5972-130_5972-128del
XM_005248280.3:c.5972-130_5972-128del	XP_005248337.1:n.5972-130_5972-128del
XM_005248282.5:c.5312-130_5312-128del	XP_005248339.3:n.5312-130_5312-128del
XM_006714468.2:c.5774-130_5774-128del	XP_006714531.1:n.5774-130_5774-128del
XM_017009329.1:c.5972-130_5972-128del	XP_016864818.1:n.5972-130_5972-128del
XM_017009330.2:c.4355-130_4355-128del	XP_016864819.1:n.4355-130_4355-128del
XM_017009331.1:c.4346-130_4346-128del	XP_016864820.1:n.4346-130_4346-128del
NM_133433.4:c.5972-130_5972-128del MANE Select	NP_597677.2:n.5972-130_5972-128del
NM_015384.5:c.5972-130_5972-128del	NP_056199.2:n.5972-130_5972-128del