Canonical Allele Identifier: CA272131

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159134
• ClinVar RCV Id: RCV000146627
• dbSNP Id: rs587783960
• MyVariant Identifiers: chr5:g.37020583_37020589del (hg19) ; chr5:g.37020481_37020487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020481_37020487del , CM000667.2:g.37020481_37020487del	GRCh38
NC_000005.9:g.37020583_37020589del , CM000667.1:g.37020583_37020589del	GRCh37
NC_000005.8:g.37056340_37056346del	NCBI36
NG_006987.1:g.148599_148605del
NG_006987.2:g.148599_148605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5033_5039del MANE Select	ENSP00000282516.8:p.Ala1678GlyfsTer13
ENST00000652901.1:c.5033_5039del	ENSP00000499536.1:p.Ala1678GlyfsTer13
ENST00000282516.12:c.5033_5039del	ENSP00000282516.8:p.Ala1678GlyfsTer13
ENST00000448238.2:c.5033_5039del	ENSP00000406266.2:p.Ala1678GlyfsTer13
ENST00000621733.1:c.1-44097_1-44091del	ENSP00000480694.1:n.1-44097_1-44091del
NM_015384.4:c.5033_5039del	NP_056199.2:p.Ala1678GlyfsTer13
NM_133433.3:c.5033_5039del	NP_597677.2:p.Ala1678GlyfsTer13
XM_005248280.2:c.5033_5039del	XP_005248337.1:p.Ala1678GlyfsTer13
XM_005248282.3:c.4289_4295del	XP_005248339.2:p.Ala1430GlyfsTer13
XM_006714467.2:c.5033_5039del	XP_006714530.1:p.Ala1678GlyfsTer13
XM_006714468.1:c.4835_4841del	XP_006714531.1:p.Ala1612GlyfsTer13
XM_011514014.1:c.4652_4658del	XP_011512316.1:p.Ala1551GlyfsTer13
XM_011514015.1:c.5033_5039del	XP_011512317.1:p.Ala1678GlyfsTer13
XM_005248280.3:c.5033_5039del	XP_005248337.1:p.Ala1678GlyfsTer13
XM_005248282.5:c.4373_4379del	XP_005248339.3:p.Ala1458GlyfsTer13
XM_006714468.2:c.4835_4841del	XP_006714531.1:p.Ala1612GlyfsTer13
XM_017009329.1:c.5033_5039del	XP_016864818.1:p.Ala1678GlyfsTer13
XM_017009330.2:c.3416_3422del	XP_016864819.1:p.Ala1139GlyfsTer13
XM_017009331.1:c.3407_3413del	XP_016864820.1:p.Ala1136GlyfsTer13
NM_133433.4:c.5033_5039del MANE Select	NP_597677.2:p.Ala1678GlyfsTer13
NM_015384.5:c.5033_5039del	NP_056199.2:p.Ala1678GlyfsTer13