Canonical Allele Identifier: CA2580073275

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2027627
• ClinVar RCV Id: RCV002866712

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985884_36985887del , CM000667.2:g.36985884_36985887del	GRCh38
NC_000005.9:g.36985986_36985989del , CM000667.1:g.36985986_36985989del	GRCh37
NC_000005.8:g.37021743_37021746del	NCBI36
NG_006987.1:g.114002_114005del
NG_006987.2:g.114002_114005del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2704_2707del MANE Select	ENSP00000282516.8:p.Lys902GlnfsTer26
ENST00000652901.1:c.2704_2707del	ENSP00000499536.1:p.Lys902GlnfsTer26
ENST00000282516.12:c.2704_2707del	ENSP00000282516.8:p.Lys902GlnfsTer26
ENST00000448238.2:c.2704_2707del	ENSP00000406266.2:p.Lys902GlnfsTer26
ENST00000504430.5:n.2324_2327del
ENST00000621733.1:c.1-78694_1-78691del	ENSP00000480694.1:n.1-78694_1-78691del
NM_015384.4:c.2704_2707del	NP_056199.2:p.Lys902GlnfsTer26
NM_133433.3:c.2704_2707del	NP_597677.2:p.Lys902GlnfsTer26
XM_005248280.2:c.2704_2707del	XP_005248337.1:p.Lys902GlnfsTer26
XM_005248282.3:c.1960_1963del	XP_005248339.2:p.Lys654GlnfsTer26
XM_006714467.2:c.2704_2707del	XP_006714530.1:p.Lys902GlnfsTer26
XM_006714468.1:c.2704_2707del	XP_006714531.1:p.Lys902GlnfsTer26
XM_011514014.1:c.2704_2707del	XP_011512316.1:p.Lys902GlnfsTer26
XM_011514015.1:c.2704_2707del	XP_011512317.1:p.Lys902GlnfsTer26
XM_005248280.3:c.2704_2707del	XP_005248337.1:p.Lys902GlnfsTer26
XM_005248282.5:c.2044_2047del	XP_005248339.3:p.Lys682GlnfsTer26
XM_006714468.2:c.2704_2707del	XP_006714531.1:p.Lys902GlnfsTer26
XM_017009329.1:c.2704_2707del	XP_016864818.1:p.Lys902GlnfsTer26
XM_017009330.2:c.1087_1090del	XP_016864819.1:p.Lys363GlnfsTer26
XM_017009331.1:c.1495+9482_1495+9485del	XP_016864820.1:n.1495+9482_1495+9485del
NM_133433.4:c.2704_2707del MANE Select	NP_597677.2:p.Lys902GlnfsTer26
NM_015384.5:c.2704_2707del	NP_056199.2:p.Lys902GlnfsTer26