Canonical Allele Identifier: CA645372767

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 436010
• ClinVar RCV Id: RCV000499947
• dbSNP Id: rs1554032085
• MyVariant Identifiers: chr5:g.37045602_37045605dup (hg19) ; chr5:g.37045500_37045503dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045500_37045503dup , CM000667.2:g.37045500_37045503dup	GRCh38
NC_000005.9:g.37045602_37045605dup , CM000667.1:g.37045602_37045605dup	GRCh37
NC_000005.8:g.37081359_37081362dup	NCBI36
NG_006987.1:g.173618_173621dup
NG_006987.2:g.173618_173621dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6401_6404dup MANE Select	ENSP00000282516.8:p.Pro2138GlnfsTer6
ENST00000652901.1:c.6401_6404dup	ENSP00000499536.1:p.Pro2138GlnfsTer6
ENST00000282516.12:c.6401_6404dup	ENSP00000282516.8:p.Pro2138GlnfsTer6
ENST00000448238.2:c.6401_6404dup	ENSP00000406266.2:p.Pro2138GlnfsTer6
ENST00000621733.1:c.1-19078_1-19075dup	ENSP00000480694.1:n.1-19078_1-19075dup
NM_015384.4:c.6401_6404dup	NP_056199.2:p.Pro2138GlnfsTer6
NM_133433.3:c.6401_6404dup	NP_597677.2:p.Pro2138GlnfsTer6
XM_005248280.2:c.6401_6404dup	XP_005248337.1:p.Pro2138GlnfsTer6
XM_005248282.3:c.5657_5660dup	XP_005248339.2:p.Pro1890GlnfsTer6
XM_006714467.2:c.6401_6404dup	XP_006714530.1:p.Pro2138GlnfsTer6
XM_006714468.1:c.6203_6206dup	XP_006714531.1:p.Pro2072GlnfsTer6
XM_011514014.1:c.6020_6023dup	XP_011512316.1:p.Pro2011GlnfsTer6
XM_011514015.1:c.6401_6404dup	XP_011512317.1:p.Pro2138GlnfsTer6
XM_005248280.3:c.6401_6404dup	XP_005248337.1:p.Pro2138GlnfsTer6
XM_005248282.5:c.5741_5744dup	XP_005248339.3:p.Pro1918GlnfsTer6
XM_006714468.2:c.6203_6206dup	XP_006714531.1:p.Pro2072GlnfsTer6
XM_017009329.1:c.6401_6404dup	XP_016864818.1:p.Pro2138GlnfsTer6
XM_017009330.2:c.4784_4787dup	XP_016864819.1:p.Pro1599GlnfsTer6
XM_017009331.1:c.4775_4778dup	XP_016864820.1:p.Pro1596GlnfsTer6
NM_133433.4:c.6401_6404dup MANE Select	NP_597677.2:p.Pro2138GlnfsTer6
NM_015384.5:c.6401_6404dup	NP_056199.2:p.Pro2138GlnfsTer6