Canonical Allele Identifier: CA2582341573

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2610130
• ClinVar RCV Id: RCV003364515

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010227_37010230del , CM000667.2:g.37010227_37010230del	GRCh38
NC_000005.9:g.37010329_37010332del , CM000667.1:g.37010329_37010332del	GRCh37
NC_000005.8:g.37046086_37046089del	NCBI36
NG_006987.1:g.138345_138348del
NG_006987.2:g.138345_138348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4560+2_4560+5del
ENST00000652901.1:c.4560+2_4560+5del
ENST00000282516.12:c.4560+2_4560+5del
ENST00000448238.2:c.4560+2_4560+5del
ENST00000621733.1:c.1-54351_1-54348del	ENSP00000480694.1:n.1-54351_1-54348del
NM_015384.4:c.4560+2_4560+5del
NM_133433.3:c.4560+2_4560+5del
XM_005248280.2:c.4560+2_4560+5del
XM_005248282.3:c.3816+2_3816+5del
XM_006714467.2:c.4560+2_4560+5del
XM_006714468.1:c.4362+2_4362+5del
XM_011514014.1:c.4179+2_4179+5del
XM_011514015.1:c.4560+2_4560+5del
XM_005248280.3:c.4560+2_4560+5del
XM_005248282.5:c.3900+2_3900+5del
XM_006714468.2:c.4362+2_4362+5del
XM_017009329.1:c.4560+2_4560+5del
XM_017009330.2:c.2943+2_2943+5del
XM_017009331.1:c.2934+2_2934+5del
NM_133433.4:c.4560+2_4560+5del
NM_015384.5:c.4560+2_4560+5del