Canonical Allele Identifier: CA2708293063

Gene: NIPBL

Linked Data

• dbSNP Id: rs1554030173

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038415_37038416dup , CM000667.2:g.37038415_37038416dup	GRCh38
NC_000005.9:g.37038517_37038518dup , CM000667.1:g.37038517_37038518dup	GRCh37
NC_000005.8:g.37074274_37074275dup	NCBI36
NG_006987.1:g.166533_166534dup
NG_006987.2:g.166533_166534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-187_5972-186dup MANE Select	ENSP00000282516.8:n.5972-187_5972-186dup
ENST00000652901.1:c.5972-187_5972-186dup	ENSP00000499536.1:n.5972-187_5972-186dup
ENST00000282516.12:c.5972-187_5972-186dup	ENSP00000282516.8:n.5972-187_5972-186dup
ENST00000448238.2:c.5972-187_5972-186dup	ENSP00000406266.2:n.5972-187_5972-186dup
ENST00000621733.1:c.1-26163_1-26162dup	ENSP00000480694.1:n.1-26163_1-26162dup
NM_015384.4:c.5972-187_5972-186dup	NP_056199.2:n.5972-187_5972-186dup
NM_133433.3:c.5972-187_5972-186dup	NP_597677.2:n.5972-187_5972-186dup
XM_005248280.2:c.5972-187_5972-186dup	XP_005248337.1:n.5972-187_5972-186dup
XM_005248282.3:c.5228-187_5228-186dup	XP_005248339.2:n.5228-187_5228-186dup
XM_006714467.2:c.5972-187_5972-186dup	XP_006714530.1:n.5972-187_5972-186dup
XM_006714468.1:c.5774-187_5774-186dup	XP_006714531.1:n.5774-187_5774-186dup
XM_011514014.1:c.5591-187_5591-186dup	XP_011512316.1:n.5591-187_5591-186dup
XM_011514015.1:c.5972-187_5972-186dup	XP_011512317.1:n.5972-187_5972-186dup
XM_005248280.3:c.5972-187_5972-186dup	XP_005248337.1:n.5972-187_5972-186dup
XM_005248282.5:c.5312-187_5312-186dup	XP_005248339.3:n.5312-187_5312-186dup
XM_006714468.2:c.5774-187_5774-186dup	XP_006714531.1:n.5774-187_5774-186dup
XM_017009329.1:c.5972-187_5972-186dup	XP_016864818.1:n.5972-187_5972-186dup
XM_017009330.2:c.4355-187_4355-186dup	XP_016864819.1:n.4355-187_4355-186dup
XM_017009331.1:c.4346-187_4346-186dup	XP_016864820.1:n.4346-187_4346-186dup
NM_133433.4:c.5972-187_5972-186dup MANE Select	NP_597677.2:n.5972-187_5972-186dup
NM_015384.5:c.5972-187_5972-186dup	NP_056199.2:n.5972-187_5972-186dup