Canonical Allele Identifier: CA277139

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 211626
• ClinVar RCV Id: RCV000193424
• dbSNP Id: rs797045750
• MyVariant Identifiers: chr5:g.36985676_36985679dupTGAA (hg19) ; chr5:g.36985574_36985577dupTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985574_36985577dup , CM000667.2:g.36985574_36985577dup	GRCh38
NC_000005.9:g.36985676_36985679dup , CM000667.1:g.36985676_36985679dup	GRCh37
NC_000005.8:g.37021433_37021436dup	NCBI36
NG_006987.1:g.113692_113695dup
NG_006987.2:g.113692_113695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2394_2397dup MANE Select	ENSP00000282516.8:p.Ala800Ter
ENST00000652901.1:c.2394_2397dup	ENSP00000499536.1:p.Ala800Ter
ENST00000282516.12:c.2394_2397dup	ENSP00000282516.8:p.Ala800Ter
ENST00000448238.2:c.2394_2397dup	ENSP00000406266.2:p.Ala800Ter
ENST00000504430.5:n.2014_2017dup
ENST00000621733.1:c.1-79004_1-79001dup	ENSP00000480694.1:n.1-79004_1-79001dup
NM_015384.4:c.2394_2397dup	NP_056199.2:p.Ala800Ter
NM_133433.3:c.2394_2397dup	NP_597677.2:p.Ala800Ter
XM_005248280.2:c.2394_2397dup	XP_005248337.1:p.Ala800Ter
XM_005248282.3:c.1650_1653dup	XP_005248339.2:p.Ala552Ter
XM_006714467.2:c.2394_2397dup	XP_006714530.1:p.Ala800Ter
XM_006714468.1:c.2394_2397dup	XP_006714531.1:p.Ala800Ter
XM_011514014.1:c.2394_2397dup	XP_011512316.1:p.Ala800Ter
XM_011514015.1:c.2394_2397dup	XP_011512317.1:p.Ala800Ter
XM_005248280.3:c.2394_2397dup	XP_005248337.1:p.Ala800Ter
XM_005248282.5:c.1734_1737dup	XP_005248339.3:p.Ala580Ter
XM_006714468.2:c.2394_2397dup	XP_006714531.1:p.Ala800Ter
XM_017009329.1:c.2394_2397dup	XP_016864818.1:p.Ala800Ter
XM_017009330.2:c.777_780dup	XP_016864819.1:p.Ala261Ter
XM_017009331.1:c.1495+9172_1495+9175dup	XP_016864820.1:n.1495+9172_1495+9175dup
NM_133433.4:c.2394_2397dup MANE Select	NP_597677.2:p.Ala800Ter
NM_015384.5:c.2394_2397dup	NP_056199.2:p.Ala800Ter