Canonical Allele Identifier: CA645372765

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 436012
• ClinVar RCV Id: RCV000503495
• dbSNP Id: rs1554017345
• MyVariant Identifiers: chr5:g.36985746_36985749del (hg19) ; chr5:g.36985644_36985647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985644_36985647del , CM000667.2:g.36985644_36985647del	GRCh38
NC_000005.9:g.36985746_36985749del , CM000667.1:g.36985746_36985749del	GRCh37
NC_000005.8:g.37021503_37021506del	NCBI36
NG_006987.1:g.113762_113765del
NG_006987.2:g.113762_113765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2464_2467del MANE Select	ENSP00000282516.8:p.Gln822AsnfsTer24
ENST00000652901.1:c.2464_2467del	ENSP00000499536.1:p.Gln822AsnfsTer24
ENST00000282516.12:c.2464_2467del	ENSP00000282516.8:p.Gln822AsnfsTer24
ENST00000448238.2:c.2464_2467del	ENSP00000406266.2:p.Gln822AsnfsTer24
ENST00000504430.5:n.2084_2087del
ENST00000621733.1:c.1-78934_1-78931del	ENSP00000480694.1:n.1-78934_1-78931del
NM_015384.4:c.2464_2467del	NP_056199.2:p.Gln822AsnfsTer24
NM_133433.3:c.2464_2467del	NP_597677.2:p.Gln822AsnfsTer24
XM_005248280.2:c.2464_2467del	XP_005248337.1:p.Gln822AsnfsTer24
XM_005248282.3:c.1720_1723del	XP_005248339.2:p.Gln574AsnfsTer24
XM_006714467.2:c.2464_2467del	XP_006714530.1:p.Gln822AsnfsTer24
XM_006714468.1:c.2464_2467del	XP_006714531.1:p.Gln822AsnfsTer24
XM_011514014.1:c.2464_2467del	XP_011512316.1:p.Gln822AsnfsTer24
XM_011514015.1:c.2464_2467del	XP_011512317.1:p.Gln822AsnfsTer24
XM_005248280.3:c.2464_2467del	XP_005248337.1:p.Gln822AsnfsTer24
XM_005248282.5:c.1804_1807del	XP_005248339.3:p.Gln602AsnfsTer24
XM_006714468.2:c.2464_2467del	XP_006714531.1:p.Gln822AsnfsTer24
XM_017009329.1:c.2464_2467del	XP_016864818.1:p.Gln822AsnfsTer24
XM_017009330.2:c.847_850del	XP_016864819.1:p.Gln283AsnfsTer24
XM_017009331.1:c.1495+9242_1495+9245del	XP_016864820.1:n.1495+9242_1495+9245del
NM_133433.4:c.2464_2467del MANE Select	NP_597677.2:p.Gln822AsnfsTer24
NM_015384.5:c.2464_2467del	NP_056199.2:p.Gln822AsnfsTer24