Canonical Allele Identifier: CA1539611325

Gene: NIPBL

Linked Data

• dbSNP Id: rs1751960626

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038406_37038410del , CM000667.2:g.37038406_37038410del	GRCh38
NC_000005.9:g.37038508_37038512del , CM000667.1:g.37038508_37038512del	GRCh37
NC_000005.8:g.37074265_37074269del	NCBI36
NG_006987.1:g.166524_166528del
NG_006987.2:g.166524_166528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-196_5972-192del MANE Select	ENSP00000282516.8:n.5972-196_5972-192del
ENST00000652901.1:c.5972-196_5972-192del	ENSP00000499536.1:n.5972-196_5972-192del
ENST00000282516.12:c.5972-196_5972-192del	ENSP00000282516.8:n.5972-196_5972-192del
ENST00000448238.2:c.5972-196_5972-192del	ENSP00000406266.2:n.5972-196_5972-192del
ENST00000621733.1:c.1-26172_1-26168del	ENSP00000480694.1:n.1-26172_1-26168del
NM_015384.4:c.5972-196_5972-192del	NP_056199.2:n.5972-196_5972-192del
NM_133433.3:c.5972-196_5972-192del	NP_597677.2:n.5972-196_5972-192del
XM_005248280.2:c.5972-196_5972-192del	XP_005248337.1:n.5972-196_5972-192del
XM_005248282.3:c.5228-196_5228-192del	XP_005248339.2:n.5228-196_5228-192del
XM_006714467.2:c.5972-196_5972-192del	XP_006714530.1:n.5972-196_5972-192del
XM_006714468.1:c.5774-196_5774-192del	XP_006714531.1:n.5774-196_5774-192del
XM_011514014.1:c.5591-196_5591-192del	XP_011512316.1:n.5591-196_5591-192del
XM_011514015.1:c.5972-196_5972-192del	XP_011512317.1:n.5972-196_5972-192del
XM_005248280.3:c.5972-196_5972-192del	XP_005248337.1:n.5972-196_5972-192del
XM_005248282.5:c.5312-196_5312-192del	XP_005248339.3:n.5312-196_5312-192del
XM_006714468.2:c.5774-196_5774-192del	XP_006714531.1:n.5774-196_5774-192del
XM_017009329.1:c.5972-196_5972-192del	XP_016864818.1:n.5972-196_5972-192del
XM_017009330.2:c.4355-196_4355-192del	XP_016864819.1:n.4355-196_4355-192del
XM_017009331.1:c.4346-196_4346-192del	XP_016864820.1:n.4346-196_4346-192del
NM_133433.4:c.5972-196_5972-192del MANE Select	NP_597677.2:n.5972-196_5972-192del
NM_015384.5:c.5972-196_5972-192del	NP_056199.2:n.5972-196_5972-192del