Canonical Allele Identifier: CA915943326

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 662787
• ClinVar RCV Id: RCV000820519
• dbSNP Id: rs1580396071

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985300del , CM000667.2:g.36985300del	GRCh38
NC_000005.9:g.36985402del , CM000667.1:g.36985402del	GRCh37
NC_000005.8:g.37021159del	NCBI36
NG_006987.1:g.113418del
NG_006987.2:g.113418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2120del MANE Select	ENSP00000282516.8:p.Gly707ValfsTer?
ENST00000652901.1:c.2120del	ENSP00000499536.1:p.Gly707ValfsTer?
ENST00000282516.12:c.2120del	ENSP00000282516.8:p.Gly707ValfsTer?
ENST00000448238.2:c.2120del	ENSP00000406266.2:p.Gly707ValfsTer?
ENST00000504430.5:n.1740del
ENST00000621733.1:c.1-79278del	ENSP00000480694.1:n.1-79278del
NM_015384.4:c.2120del	NP_056199.2:p.Gly707ValfsTer?
NM_133433.3:c.2120del	NP_597677.2:p.Gly707ValfsTer?
XM_005248280.2:c.2120del	XP_005248337.1:p.Gly707ValfsTer?
XM_005248282.3:c.1376del	XP_005248339.2:p.Gly459ValfsTer?
XM_006714467.2:c.2120del	XP_006714530.1:p.Gly707ValfsTer?
XM_006714468.1:c.2120del	XP_006714531.1:p.Gly707ValfsTer?
XM_011514014.1:c.2120del	XP_011512316.1:p.Gly707ValfsTer?
XM_011514015.1:c.2120del	XP_011512317.1:p.Gly707ValfsTer?
XM_005248280.3:c.2120del	XP_005248337.1:p.Gly707ValfsTer?
XM_005248282.5:c.1460del	XP_005248339.3:p.Gly487ValfsTer?
XM_006714468.2:c.2120del	XP_006714531.1:p.Gly707ValfsTer?
XM_017009329.1:c.2120del	XP_016864818.1:p.Gly707ValfsTer?
XM_017009330.2:c.503del	XP_016864819.1:p.Gly168ValfsTer?
XM_017009331.1:c.1495+8898del	XP_016864820.1:n.1495+8898del
NM_133433.4:c.2120del MANE Select	NP_597677.2:p.Gly707ValfsTer?
NM_015384.5:c.2120del	NP_056199.2:p.Gly707ValfsTer?