Canonical Allele Identifier: CA1139655869

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 961905
• ClinVar RCV Id: RCV001235669
• dbSNP Id: rs1743386760

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975907_36975916del , CM000667.2:g.36975907_36975916del	GRCh38
NC_000005.9:g.36976009_36976018del , CM000667.1:g.36976009_36976018del	GRCh37
NC_000005.8:g.37011766_37011775del	NCBI36
NG_006987.1:g.104025_104034del
NG_006987.2:g.104025_104034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1000_1009del MANE Select	ENSP00000282516.8:p.Asp334SerfsTer11
ENST00000652901.1:c.1000_1009del	ENSP00000499536.1:p.Asp334SerfsTer11
ENST00000282516.12:c.1000_1009del	ENSP00000282516.8:p.Asp334SerfsTer11
ENST00000448238.2:c.1000_1009del	ENSP00000406266.2:p.Asp334SerfsTer11
ENST00000504430.5:n.620_629del
ENST00000621733.1:c.1-88671_1-88662del	ENSP00000480694.1:n.1-88671_1-88662del
NM_015384.4:c.1000_1009del	NP_056199.2:p.Asp334SerfsTer11
NM_133433.3:c.1000_1009del	NP_597677.2:p.Asp334SerfsTer11
XM_005248280.2:c.1000_1009del	XP_005248337.1:p.Asp334SerfsTer11
XM_005248282.3:c.256_265del	XP_005248339.2:p.Asp86SerfsTer11
XM_006714467.2:c.1000_1009del	XP_006714530.1:p.Asp334SerfsTer11
XM_006714468.1:c.1000_1009del	XP_006714531.1:p.Asp334SerfsTer11
XM_011514014.1:c.1000_1009del	XP_011512316.1:p.Asp334SerfsTer11
XM_011514015.1:c.1000_1009del	XP_011512317.1:p.Asp334SerfsTer11
XM_005248280.3:c.1000_1009del	XP_005248337.1:p.Asp334SerfsTer11
XM_005248282.5:c.340_349del	XP_005248339.3:p.Asp114SerfsTer11
XM_006714468.2:c.1000_1009del	XP_006714531.1:p.Asp334SerfsTer11
XM_017009329.1:c.1000_1009del	XP_016864818.1:p.Asp334SerfsTer11
XM_017009331.1:c.1000_1009del	XP_016864820.1:p.Asp334SerfsTer11
NM_133433.4:c.1000_1009del MANE Select	NP_597677.2:p.Asp334SerfsTer11
NM_015384.5:c.1000_1009del	NP_056199.2:p.Asp334SerfsTer11