Canonical Allele Identifier: CA2695204350

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020673_37020677del , CM000667.2:g.37020673_37020677del	GRCh38
NC_000005.9:g.37020775_37020779del , CM000667.1:g.37020775_37020779del	GRCh37
NC_000005.8:g.37056532_37056536del	NCBI36
NG_006987.1:g.148791_148795del
NG_006987.2:g.148791_148795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5225_5225+4del
ENST00000652901.1:c.5225_5225+4del
ENST00000282516.12:c.5225_5225+4del
ENST00000448238.2:c.5225_5225+4del
ENST00000621733.1:c.1-43905_1-43901del	ENSP00000480694.1:n.1-43905_1-43901del
NM_015384.4:c.5225_5225+4del
NM_133433.3:c.5225_5225+4del
XM_005248280.2:c.5225_5225+4del
XM_005248282.3:c.4481_4481+4del
XM_006714467.2:c.5225_5225+4del
XM_006714468.1:c.5027_5027+4del
XM_011514014.1:c.4844_4844+4del
XM_011514015.1:c.5225_5225+4del
XM_005248280.3:c.5225_5225+4del
XM_005248282.5:c.4565_4565+4del
XM_006714468.2:c.5027_5027+4del
XM_017009329.1:c.5225_5225+4del
XM_017009330.2:c.3608_3608+4del
XM_017009331.1:c.3599_3599+4del
NM_133433.4:c.5225_5225+4del
NM_015384.5:c.5225_5225+4del