Canonical Allele Identifier: CA1539611396

Gene: NIPBL

Linked Data

• dbSNP Id: rs1751968769

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038482_37038486del , CM000667.2:g.37038482_37038486del	GRCh38
NC_000005.9:g.37038584_37038588del , CM000667.1:g.37038584_37038588del	GRCh37
NC_000005.8:g.37074341_37074345del	NCBI36
NG_006987.1:g.166600_166604del
NG_006987.2:g.166600_166604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-120_5972-116del MANE Select	ENSP00000282516.8:n.5972-120_5972-116del
ENST00000652901.1:c.5972-120_5972-116del	ENSP00000499536.1:n.5972-120_5972-116del
ENST00000282516.12:c.5972-120_5972-116del	ENSP00000282516.8:n.5972-120_5972-116del
ENST00000448238.2:c.5972-120_5972-116del	ENSP00000406266.2:n.5972-120_5972-116del
ENST00000621733.1:c.1-26096_1-26092del	ENSP00000480694.1:n.1-26096_1-26092del
NM_015384.4:c.5972-120_5972-116del	NP_056199.2:n.5972-120_5972-116del
NM_133433.3:c.5972-120_5972-116del	NP_597677.2:n.5972-120_5972-116del
XM_005248280.2:c.5972-120_5972-116del	XP_005248337.1:n.5972-120_5972-116del
XM_005248282.3:c.5228-120_5228-116del	XP_005248339.2:n.5228-120_5228-116del
XM_006714467.2:c.5972-120_5972-116del	XP_006714530.1:n.5972-120_5972-116del
XM_006714468.1:c.5774-120_5774-116del	XP_006714531.1:n.5774-120_5774-116del
XM_011514014.1:c.5591-120_5591-116del	XP_011512316.1:n.5591-120_5591-116del
XM_011514015.1:c.5972-120_5972-116del	XP_011512317.1:n.5972-120_5972-116del
XM_005248280.3:c.5972-120_5972-116del	XP_005248337.1:n.5972-120_5972-116del
XM_005248282.5:c.5312-120_5312-116del	XP_005248339.3:n.5312-120_5312-116del
XM_006714468.2:c.5774-120_5774-116del	XP_006714531.1:n.5774-120_5774-116del
XM_017009329.1:c.5972-120_5972-116del	XP_016864818.1:n.5972-120_5972-116del
XM_017009330.2:c.4355-120_4355-116del	XP_016864819.1:n.4355-120_4355-116del
XM_017009331.1:c.4346-120_4346-116del	XP_016864820.1:n.4346-120_4346-116del
NM_133433.4:c.5972-120_5972-116del MANE Select	NP_597677.2:n.5972-120_5972-116del
NM_015384.5:c.5972-120_5972-116del	NP_056199.2:n.5972-120_5972-116del