Canonical Allele Identifier: CA1139658780

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 955276
• ClinVar RCV Id: RCV001227884
• dbSNP Id: rs1741192008

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958181_36958184dup , CM000667.2:g.36958181_36958184dup	GRCh38
NC_000005.9:g.36958283_36958286dup , CM000667.1:g.36958283_36958286dup	GRCh37
NC_000005.8:g.36994040_36994043dup	NCBI36
NG_006987.1:g.86299_86302dup
NG_006987.2:g.86299_86302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.308_311dup MANE Select	ENSP00000282516.8:p.Asn105SerfsTer2
ENST00000652901.1:c.308_311dup	ENSP00000499536.1:p.Asn105SerfsTer2
ENST00000282516.12:c.308_311dup	ENSP00000282516.8:p.Asn105SerfsTer2
ENST00000448238.2:c.308_311dup	ENSP00000406266.2:p.Asn105SerfsTer2
ENST00000505998.5:n.287_290dup
ENST00000621733.1:c.-1+81159_-1+81162dup	ENSP00000480694.1:n.-1+81159_-1+81162dup
NM_015384.4:c.308_311dup	NP_056199.2:p.Asn105SerfsTer2
NM_133433.3:c.308_311dup	NP_597677.2:p.Asn105SerfsTer2
XM_005248280.2:c.308_311dup	XP_005248337.1:p.Asn105SerfsTer2
XM_006714467.2:c.308_311dup	XP_006714530.1:p.Asn105SerfsTer2
XM_006714468.1:c.308_311dup	XP_006714531.1:p.Asn105SerfsTer2
XM_011514014.1:c.308_311dup	XP_011512316.1:p.Asn105SerfsTer2
XM_011514015.1:c.308_311dup	XP_011512317.1:p.Asn105SerfsTer2
XM_005248280.3:c.308_311dup	XP_005248337.1:p.Asn105SerfsTer2
XM_006714468.2:c.308_311dup	XP_006714531.1:p.Asn105SerfsTer2
XM_017009329.1:c.308_311dup	XP_016864818.1:p.Asn105SerfsTer2
XM_017009331.1:c.308_311dup	XP_016864820.1:p.Asn105SerfsTer2
NM_133433.4:c.308_311dup MANE Select	NP_597677.2:p.Asn105SerfsTer2
NM_015384.5:c.308_311dup	NP_056199.2:p.Asn105SerfsTer2