Canonical Allele Identifier: CA2580073201

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1697859
• ClinVar RCV Id: RCV002269143
• dbSNP Id: rs2149602979

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958175_36958184del , CM000667.2:g.36958175_36958184del	GRCh38
NC_000005.9:g.36958277_36958286del , CM000667.1:g.36958277_36958286del	GRCh37
NC_000005.8:g.36994034_36994043del	NCBI36
NG_006987.1:g.86293_86302del
NG_006987.2:g.86293_86302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.302_311del MANE Select	ENSP00000282516.8:p.Ala101ValfsTer18
ENST00000652901.1:c.302_311del	ENSP00000499536.1:p.Ala101ValfsTer18
ENST00000282516.12:c.302_311del	ENSP00000282516.8:p.Ala101ValfsTer18
ENST00000448238.2:c.302_311del	ENSP00000406266.2:p.Ala101ValfsTer18
ENST00000505998.5:n.281_290del
ENST00000621733.1:c.-1+81153_-1+81162del	ENSP00000480694.1:n.-1+81153_-1+81162del
NM_015384.4:c.302_311del	NP_056199.2:p.Ala101ValfsTer18
NM_133433.3:c.302_311del	NP_597677.2:p.Ala101ValfsTer18
XM_005248280.2:c.302_311del	XP_005248337.1:p.Ala101ValfsTer18
XM_006714467.2:c.302_311del	XP_006714530.1:p.Ala101ValfsTer18
XM_006714468.1:c.302_311del	XP_006714531.1:p.Ala101ValfsTer18
XM_011514014.1:c.302_311del	XP_011512316.1:p.Ala101ValfsTer18
XM_011514015.1:c.302_311del	XP_011512317.1:p.Ala101ValfsTer18
XM_005248280.3:c.302_311del	XP_005248337.1:p.Ala101ValfsTer18
XM_006714468.2:c.302_311del	XP_006714531.1:p.Ala101ValfsTer18
XM_017009329.1:c.302_311del	XP_016864818.1:p.Ala101ValfsTer18
XM_017009331.1:c.302_311del	XP_016864820.1:p.Ala101ValfsTer18
NM_133433.4:c.302_311del MANE Select	NP_597677.2:p.Ala101ValfsTer18
NM_015384.5:c.302_311del	NP_056199.2:p.Ala101ValfsTer18