Canonical Allele Identifier: CA2983484571

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045590_37045598del , CM000667.2:g.37045590_37045598del	GRCh38
NC_000005.9:g.37045692_37045700del , CM000667.1:g.37045692_37045700del	GRCh37
NC_000005.8:g.37081449_37081457del	NCBI36
NG_006987.1:g.173708_173716del
NG_006987.2:g.173708_173716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6491_6498+1del
ENST00000652901.1:c.6491_6498+1del
ENST00000282516.12:c.6491_6498+1del
ENST00000448238.2:c.6491_6498+1del
ENST00000621733.1:c.1-18988_1-18980del	ENSP00000480694.1:n.1-18988_1-18980del
NM_015384.4:c.6491_6498+1del
NM_133433.3:c.6491_6498+1del
XM_005248280.2:c.6491_6498+1del
XM_005248282.3:c.5747_5754+1del
XM_006714467.2:c.6491_6498+1del
XM_006714468.1:c.6293_6300+1del
XM_011514014.1:c.6110_6117+1del
XM_011514015.1:c.6491_6498+1del
XM_005248280.3:c.6491_6498+1del
XM_005248282.5:c.5831_5838+1del
XM_006714468.2:c.6293_6300+1del
XM_017009329.1:c.6491_6498+1del
XM_017009330.2:c.4874_4881+1del
XM_017009331.1:c.4865_4872+1del
NM_133433.4:c.6491_6498+1del
NM_015384.5:c.6491_6498+1del