Canonical Allele Identifier: CA2580073212

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2121303
• ClinVar RCV Id: RCV003043183

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020535_37020536del , CM000667.2:g.37020535_37020536del	GRCh38
NC_000005.9:g.37020637_37020638del , CM000667.1:g.37020637_37020638del	GRCh37
NC_000005.8:g.37056394_37056395del	NCBI36
NG_006987.1:g.148653_148654del
NG_006987.2:g.148653_148654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5087_5088del MANE Select	ENSP00000282516.8:p.Lys1696ArgfsTer2
ENST00000652901.1:c.5087_5088del	ENSP00000499536.1:p.Lys1696ArgfsTer2
ENST00000282516.12:c.5087_5088del	ENSP00000282516.8:p.Lys1696ArgfsTer2
ENST00000448238.2:c.5087_5088del	ENSP00000406266.2:p.Lys1696ArgfsTer2
ENST00000621733.1:c.1-44043_1-44042del	ENSP00000480694.1:n.1-44043_1-44042del
NM_015384.4:c.5087_5088del	NP_056199.2:p.Lys1696ArgfsTer2
NM_133433.3:c.5087_5088del	NP_597677.2:p.Lys1696ArgfsTer2
XM_005248280.2:c.5087_5088del	XP_005248337.1:p.Lys1696ArgfsTer2
XM_005248282.3:c.4343_4344del	XP_005248339.2:p.Lys1448ArgfsTer2
XM_006714467.2:c.5087_5088del	XP_006714530.1:p.Lys1696ArgfsTer2
XM_006714468.1:c.4889_4890del	XP_006714531.1:p.Lys1630ArgfsTer2
XM_011514014.1:c.4706_4707del	XP_011512316.1:p.Lys1569ArgfsTer2
XM_011514015.1:c.5087_5088del	XP_011512317.1:p.Lys1696ArgfsTer2
XM_005248280.3:c.5087_5088del	XP_005248337.1:p.Lys1696ArgfsTer2
XM_005248282.5:c.4427_4428del	XP_005248339.3:p.Lys1476ArgfsTer2
XM_006714468.2:c.4889_4890del	XP_006714531.1:p.Lys1630ArgfsTer2
XM_017009329.1:c.5087_5088del	XP_016864818.1:p.Lys1696ArgfsTer2
XM_017009330.2:c.3470_3471del	XP_016864819.1:p.Lys1157ArgfsTer2
XM_017009331.1:c.3461_3462del	XP_016864820.1:p.Lys1154ArgfsTer2
NM_133433.4:c.5087_5088del MANE Select	NP_597677.2:p.Lys1696ArgfsTer2
NM_015384.5:c.5087_5088del	NP_056199.2:p.Lys1696ArgfsTer2