Canonical Allele Identifier: CA917452700
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1561102946

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36976386del , CM000667.2:g.36976386del GRCh38
NC_000005.9:g.36976488del , CM000667.1:g.36976488del GRCh37
NC_000005.8:g.37012245del NCBI36
NG_006987.1:g.104504del
NG_006987.2:g.104504del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.1479del MANE Select ENSP00000282516.8:p.Glu494LysfsTer9
ENST00000652901.1:c.1479del ENSP00000499536.1:p.Glu494LysfsTer9
ENST00000282516.12:c.1479del ENSP00000282516.8:p.Glu494LysfsTer9
ENST00000448238.2:c.1479del ENSP00000406266.2:p.Glu494LysfsTer9
ENST00000504430.5:n.1099del
ENST00000621733.1:c.1-88192del ENSP00000480694.1:n.1-88192del
NM_015384.4:c.1479del NP_056199.2:p.Glu494LysfsTer9
NM_133433.3:c.1479del NP_597677.2:p.Glu494LysfsTer9
XM_005248280.2:c.1479del XP_005248337.1:p.Glu494LysfsTer9
XM_005248282.3:c.735del XP_005248339.2:p.Glu246LysfsTer9
XM_006714467.2:c.1479del XP_006714530.1:p.Glu494LysfsTer9
XM_006714468.1:c.1479del XP_006714531.1:p.Glu494LysfsTer9
XM_011514014.1:c.1479del XP_011512316.1:p.Glu494LysfsTer9
XM_011514015.1:c.1479del XP_011512317.1:p.Glu494LysfsTer9
XM_005248280.3:c.1479del XP_005248337.1:p.Glu494LysfsTer9
XM_005248282.5:c.819del XP_005248339.3:p.Glu274LysfsTer9
XM_006714468.2:c.1479del XP_006714531.1:p.Glu494LysfsTer9
XM_017009329.1:c.1479del XP_016864818.1:p.Glu494LysfsTer9
XM_017009331.1:c.1479del XP_016864820.1:p.Glu494LysfsTer8
NM_133433.4:c.1479del MANE Select NP_597677.2:p.Glu494LysfsTer9
NM_015384.5:c.1479del NP_056199.2:p.Glu494LysfsTer9