Canonical Allele Identifier: CA117038201

Gene: NIPBL

Linked Data

• dbSNP Id: rs1554030173
• MyVariant Identifiers: chr5:g.37038515_37038516insTATA (hg19) ; chr5:g.37038413_37038414insTATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038416_37038417insATAT , CM000667.2:g.37038416_37038417insATAT	GRCh38
NC_000005.9:g.37038518_37038519insATAT , CM000667.1:g.37038518_37038519insATAT	GRCh37
NC_000005.8:g.37074275_37074276insATAT	NCBI36
NG_006987.1:g.166534_166535insATAT
NG_006987.2:g.166534_166535insATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-186_5972-185insATAT MANE Select	ENSP00000282516.8:n.5972-186_5972-185insATAT
ENST00000652901.1:c.5972-186_5972-185insATAT	ENSP00000499536.1:n.5972-186_5972-185insATAT
ENST00000282516.12:c.5972-186_5972-185insATAT	ENSP00000282516.8:n.5972-186_5972-185insATAT
ENST00000448238.2:c.5972-186_5972-185insATAT	ENSP00000406266.2:n.5972-186_5972-185insATAT
ENST00000621733.1:c.1-26162_1-26161insATAT	ENSP00000480694.1:n.1-26162_1-26161insATAT
NM_015384.4:c.5972-186_5972-185insATAT	NP_056199.2:n.5972-186_5972-185insATAT
NM_133433.3:c.5972-186_5972-185insATAT	NP_597677.2:n.5972-186_5972-185insATAT
XM_005248280.2:c.5972-186_5972-185insATAT	XP_005248337.1:n.5972-186_5972-185insATAT
XM_005248282.3:c.5228-186_5228-185insATAT	XP_005248339.2:n.5228-186_5228-185insATAT
XM_006714467.2:c.5972-186_5972-185insATAT	XP_006714530.1:n.5972-186_5972-185insATAT
XM_006714468.1:c.5774-186_5774-185insATAT	XP_006714531.1:n.5774-186_5774-185insATAT
XM_011514014.1:c.5591-186_5591-185insATAT	XP_011512316.1:n.5591-186_5591-185insATAT
XM_011514015.1:c.5972-186_5972-185insATAT	XP_011512317.1:n.5972-186_5972-185insATAT
XM_005248280.3:c.5972-186_5972-185insATAT	XP_005248337.1:n.5972-186_5972-185insATAT
XM_005248282.5:c.5312-186_5312-185insATAT	XP_005248339.3:n.5312-186_5312-185insATAT
XM_006714468.2:c.5774-186_5774-185insATAT	XP_006714531.1:n.5774-186_5774-185insATAT
XM_017009329.1:c.5972-186_5972-185insATAT	XP_016864818.1:n.5972-186_5972-185insATAT
XM_017009330.2:c.4355-186_4355-185insATAT	XP_016864819.1:n.4355-186_4355-185insATAT
XM_017009331.1:c.4346-186_4346-185insATAT	XP_016864820.1:n.4346-186_4346-185insATAT
NM_133433.4:c.5972-186_5972-185insATAT MANE Select	NP_597677.2:n.5972-186_5972-185insATAT
NM_015384.5:c.5972-186_5972-185insATAT	NP_056199.2:n.5972-186_5972-185insATAT