Canonical Allele Identifier: CA658683383

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 493407
• ClinVar RCV Id: RCV000585059
• dbSNP Id: rs1554036165

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064751dup , CM000667.2:g.37064751dup	GRCh38
NC_000005.9:g.37064853dup , CM000667.1:g.37064853dup	GRCh37
NC_000005.8:g.37100610dup	NCBI36
NG_006987.1:g.192869dup
NG_006987.2:g.192869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8274dup (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2759ThrfsTer9
ENST00000652901.1:c.*218dup (NIPBL)	ENSP00000499536.1:n.*218dup
ENST00000282516.12:c.8274dup (NIPBL)	ENSP00000282516.8:p.Leu2759ThrfsTer9
ENST00000514335.1:n.2197dup (NIPBL)
ENST00000621733.1:c.174dup (NIPBL)	ENSP00000480694.1:p.Leu59ThrfsTer9
NM_015384.4:c.*728dup (NIPBL)	NP_056199.2:n.*728dup
NM_133433.3:c.8274dup (NIPBL)	NP_597677.2:p.Leu2759ThrfsTer9
XM_005248280.2:c.*218dup (NIPBL)	XP_005248337.1:n.*218dup
XM_005248282.3:c.7530dup (NIPBL)	XP_005248339.2:p.Leu2511ThrfsTer9
XM_006714467.2:c.8127dup (NIPBL)	XP_006714530.1:p.Leu2710ThrfsTer9
XM_006714468.1:c.8076dup (NIPBL)	XP_006714531.1:p.Leu2693ThrfsTer9
XM_011514014.1:c.7893dup (NIPBL)	XP_011512316.1:p.Leu2632ThrfsTer9
XM_005248280.3:c.*218dup (NIPBL)	XP_005248337.1:n.*218dup
XM_005248282.5:c.7614dup (NIPBL)	XP_005248339.3:p.Leu2539ThrfsTer9
XM_006714468.2:c.8076dup (NIPBL)	XP_006714531.1:p.Leu2693ThrfsTer9
XM_017009329.1:c.*218dup (NIPBL)	XP_016864818.1:n.*218dup
XM_017009330.2:c.6657dup (NIPBL)	XP_016864819.1:p.Leu2220ThrfsTer9
XM_017009331.1:c.6648dup (NIPBL)	XP_016864820.1:p.Leu2217ThrfsTer9
XR_925644.2:n.11933dup (CPLANE1)
NM_133433.4:c.8274dup (NIPBL) MANE Select	NP_597677.2:p.Leu2759ThrfsTer9
NM_015384.5:c.*728dup (NIPBL)	NP_056199.2:n.*728dup