Canonical Allele Identifier: CA658796513

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 498247
• ClinVar RCV Id: RCV000591807 ; RCV002341517
• dbSNP Id: rs1554024009
• MyVariant Identifiers: chr5:g.37016256_37016259del (hg19) ; chr5:g.37016154_37016157del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016154_37016157del , CM000667.2:g.37016154_37016157del	GRCh38
NC_000005.9:g.37016256_37016259del , CM000667.1:g.37016256_37016259del	GRCh37
NC_000005.8:g.37052013_37052016del	NCBI36
NG_006987.1:g.144272_144275del
NG_006987.2:g.144272_144275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4760_4763del MANE Select	ENSP00000282516.8:p.Leu1587Ter
ENST00000652901.1:c.4760_4763del	ENSP00000499536.1:p.Leu1587Ter
ENST00000282516.12:c.4760_4763del	ENSP00000282516.8:p.Leu1587Ter
ENST00000448238.2:c.4760_4763del	ENSP00000406266.2:p.Leu1587Ter
ENST00000621733.1:c.1-48424_1-48421del	ENSP00000480694.1:n.1-48424_1-48421del
NM_015384.4:c.4760_4763del	NP_056199.2:p.Leu1587Ter
NM_133433.3:c.4760_4763del	NP_597677.2:p.Leu1587Ter
XM_005248280.2:c.4760_4763del	XP_005248337.1:p.Leu1587Ter
XM_005248282.3:c.4016_4019del	XP_005248339.2:p.Leu1339Ter
XM_006714467.2:c.4760_4763del	XP_006714530.1:p.Leu1587Ter
XM_006714468.1:c.4562_4565del	XP_006714531.1:p.Leu1521Ter
XM_011514014.1:c.4379_4382del	XP_011512316.1:p.Leu1460Ter
XM_011514015.1:c.4760_4763del	XP_011512317.1:p.Leu1587Ter
XM_005248280.3:c.4760_4763del	XP_005248337.1:p.Leu1587Ter
XM_005248282.5:c.4100_4103del	XP_005248339.3:p.Leu1367Ter
XM_006714468.2:c.4562_4565del	XP_006714531.1:p.Leu1521Ter
XM_017009329.1:c.4760_4763del	XP_016864818.1:p.Leu1587Ter
XM_017009330.2:c.3143_3146del	XP_016864819.1:p.Leu1048Ter
XM_017009331.1:c.3134_3137del	XP_016864820.1:p.Leu1045Ter
NM_133433.4:c.4760_4763del MANE Select	NP_597677.2:p.Leu1587Ter
NM_015384.5:c.4760_4763del	NP_056199.2:p.Leu1587Ter