Canonical Allele Identifier: CA272132

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159135
• ClinVar RCV Id: RCV000146628
• dbSNP Id: rs587783961
• MyVariant Identifiers: chr5:g.37020724del (hg19) ; chr5:g.37020622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020622del , CM000667.2:g.37020622del	GRCh38
NC_000005.9:g.37020724del , CM000667.1:g.37020724del	GRCh37
NC_000005.8:g.37056481del	NCBI36
NG_006987.1:g.148740del
NG_006987.2:g.148740del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5174del MANE Select	ENSP00000282516.8:p.Lys1725SerfsTer17
ENST00000652901.1:c.5174del	ENSP00000499536.1:p.Lys1725SerfsTer17
ENST00000282516.12:c.5174del	ENSP00000282516.8:p.Lys1725SerfsTer17
ENST00000448238.2:c.5174del	ENSP00000406266.2:p.Lys1725SerfsTer17
ENST00000621733.1:c.1-43956del	ENSP00000480694.1:n.1-43956del
NM_015384.4:c.5174del	NP_056199.2:p.Lys1725SerfsTer17
NM_133433.3:c.5174del	NP_597677.2:p.Lys1725SerfsTer17
XM_005248280.2:c.5174del	XP_005248337.1:p.Lys1725SerfsTer17
XM_005248282.3:c.4430del	XP_005248339.2:p.Lys1477SerfsTer17
XM_006714467.2:c.5174del	XP_006714530.1:p.Lys1725SerfsTer17
XM_006714468.1:c.4976del	XP_006714531.1:p.Lys1659SerfsTer17
XM_011514014.1:c.4793del	XP_011512316.1:p.Lys1598SerfsTer17
XM_011514015.1:c.5174del	XP_011512317.1:p.Lys1725SerfsTer17
XM_005248280.3:c.5174del	XP_005248337.1:p.Lys1725SerfsTer17
XM_005248282.5:c.4514del	XP_005248339.3:p.Lys1505SerfsTer17
XM_006714468.2:c.4976del	XP_006714531.1:p.Lys1659SerfsTer17
XM_017009329.1:c.5174del	XP_016864818.1:p.Lys1725SerfsTer17
XM_017009330.2:c.3557del	XP_016864819.1:p.Lys1186SerfsTer17
XM_017009331.1:c.3548del	XP_016864820.1:p.Lys1183SerfsTer17
NM_133433.4:c.5174del MANE Select	NP_597677.2:p.Lys1725SerfsTer17
NM_015384.5:c.5174del	NP_056199.2:p.Lys1725SerfsTer17