Canonical Allele Identifier: CA2580617960

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2578976
• ClinVar RCV Id: RCV003327152

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020675_37020678del , CM000667.2:g.37020675_37020678del	GRCh38
NC_000005.9:g.37020777_37020780del , CM000667.1:g.37020777_37020780del	GRCh37
NC_000005.8:g.37056534_37056537del	NCBI36
NG_006987.1:g.148793_148796del
NG_006987.2:g.148793_148796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5225+2_5225+5del
ENST00000652901.1:c.5225+2_5225+5del
ENST00000282516.12:c.5225+2_5225+5del
ENST00000448238.2:c.5225+2_5225+5del
ENST00000621733.1:c.1-43903_1-43900del	ENSP00000480694.1:n.1-43903_1-43900del
NM_015384.4:c.5225+2_5225+5del
NM_133433.3:c.5225+2_5225+5del
XM_005248280.2:c.5225+2_5225+5del
XM_005248282.3:c.4481+2_4481+5del
XM_006714467.2:c.5225+2_5225+5del
XM_006714468.1:c.5027+2_5027+5del
XM_011514014.1:c.4844+2_4844+5del
XM_011514015.1:c.5225+2_5225+5del
XM_005248280.3:c.5225+2_5225+5del
XM_005248282.5:c.4565+2_4565+5del
XM_006714468.2:c.5027+2_5027+5del
XM_017009329.1:c.5225+2_5225+5del
XM_017009330.2:c.3608+2_3608+5del
XM_017009331.1:c.3599+2_3599+5del
NM_133433.4:c.5225+2_5225+5del
NM_015384.5:c.5225+2_5225+5del