Canonical Allele Identifier: CA271970

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159034
• ClinVar RCV Id: RCV000146519
• dbSNP Id: rs80358382
• MyVariant Identifiers: chr5:g.36976456_36976457del (hg19) ; chr5:g.36976354_36976355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976354_36976355del , CM000667.2:g.36976354_36976355del	GRCh38
NC_000005.9:g.36976456_36976457del , CM000667.1:g.36976456_36976457del	GRCh37
NC_000005.8:g.37012213_37012214del	NCBI36
NG_006987.1:g.104472_104473del
NG_006987.2:g.104472_104473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1447_1448del MANE Select	ENSP00000282516.8:p.Glu483IlefsTer4
ENST00000652901.1:c.1447_1448del	ENSP00000499536.1:p.Glu483IlefsTer4
ENST00000282516.12:c.1447_1448del	ENSP00000282516.8:p.Glu483IlefsTer4
ENST00000448238.2:c.1447_1448del	ENSP00000406266.2:p.Glu483IlefsTer4
ENST00000504430.5:n.1067_1068del
ENST00000621733.1:c.1-88224_1-88223del	ENSP00000480694.1:n.1-88224_1-88223del
NM_015384.4:c.1447_1448del	NP_056199.2:p.Glu483IlefsTer4
NM_133433.3:c.1447_1448del	NP_597677.2:p.Glu483IlefsTer4
XM_005248280.2:c.1447_1448del	XP_005248337.1:p.Glu483IlefsTer4
XM_005248282.3:c.703_704del	XP_005248339.2:p.Glu235IlefsTer4
XM_006714467.2:c.1447_1448del	XP_006714530.1:p.Glu483IlefsTer4
XM_006714468.1:c.1447_1448del	XP_006714531.1:p.Glu483IlefsTer4
XM_011514014.1:c.1447_1448del	XP_011512316.1:p.Glu483IlefsTer4
XM_011514015.1:c.1447_1448del	XP_011512317.1:p.Glu483IlefsTer4
XM_005248280.3:c.1447_1448del	XP_005248337.1:p.Glu483IlefsTer4
XM_005248282.5:c.787_788del	XP_005248339.3:p.Glu263IlefsTer4
XM_006714468.2:c.1447_1448del	XP_006714531.1:p.Glu483IlefsTer4
XM_017009329.1:c.1447_1448del	XP_016864818.1:p.Glu483IlefsTer4
XM_017009331.1:c.1447_1448del	XP_016864820.1:p.Glu483IlefsTer4
NM_133433.4:c.1447_1448del MANE Select	NP_597677.2:p.Glu483IlefsTer4
NM_015384.5:c.1447_1448del	NP_056199.2:p.Glu483IlefsTer4