Canonical Allele Identifier: CA2573139686

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1399376
• ClinVar RCV Id: RCV001917637
• dbSNP Id: rs2149721484

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038710_37038713dup , CM000667.2:g.37038710_37038713dup	GRCh38
NC_000005.9:g.37038812_37038815dup , CM000667.1:g.37038812_37038815dup	GRCh37
NC_000005.8:g.37074569_37074572dup	NCBI36
NG_006987.1:g.166828_166831dup
NG_006987.2:g.166828_166831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6080_6083dup MANE Select	ENSP00000282516.8:p.Gln2028HisfsTer8
ENST00000652901.1:c.6080_6083dup	ENSP00000499536.1:p.Gln2028HisfsTer8
ENST00000282516.12:c.6080_6083dup	ENSP00000282516.8:p.Gln2028HisfsTer8
ENST00000448238.2:c.6080_6083dup	ENSP00000406266.2:p.Gln2028HisfsTer8
ENST00000621733.1:c.1-25868_1-25865dup	ENSP00000480694.1:n.1-25868_1-25865dup
NM_015384.4:c.6080_6083dup	NP_056199.2:p.Gln2028HisfsTer8
NM_133433.3:c.6080_6083dup	NP_597677.2:p.Gln2028HisfsTer8
XM_005248280.2:c.6080_6083dup	XP_005248337.1:p.Gln2028HisfsTer8
XM_005248282.3:c.5336_5339dup	XP_005248339.2:p.Gln1780HisfsTer8
XM_006714467.2:c.6080_6083dup	XP_006714530.1:p.Gln2028HisfsTer8
XM_006714468.1:c.5882_5885dup	XP_006714531.1:p.Gln1962HisfsTer8
XM_011514014.1:c.5699_5702dup	XP_011512316.1:p.Gln1901HisfsTer8
XM_011514015.1:c.6080_6083dup	XP_011512317.1:p.Gln2028HisfsTer8
XM_005248280.3:c.6080_6083dup	XP_005248337.1:p.Gln2028HisfsTer8
XM_005248282.5:c.5420_5423dup	XP_005248339.3:p.Gln1808HisfsTer8
XM_006714468.2:c.5882_5885dup	XP_006714531.1:p.Gln1962HisfsTer8
XM_017009329.1:c.6080_6083dup	XP_016864818.1:p.Gln2028HisfsTer8
XM_017009330.2:c.4463_4466dup	XP_016864819.1:p.Gln1489HisfsTer8
XM_017009331.1:c.4454_4457dup	XP_016864820.1:p.Gln1486HisfsTer8
NM_133433.4:c.6080_6083dup MANE Select	NP_597677.2:p.Gln2028HisfsTer8
NM_015384.5:c.6080_6083dup	NP_056199.2:p.Gln2028HisfsTer8