Canonical Allele Identifier: CA658657438

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 476587
• ClinVar RCV Id: RCV000555256
• dbSNP Id: rs1554019698
• MyVariant Identifiers: chr5:g.36995850del (hg19) ; chr5:g.36995748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995748del , CM000667.2:g.36995748del	GRCh38
NC_000005.9:g.36995850del , CM000667.1:g.36995850del	GRCh37
NC_000005.8:g.37031607del	NCBI36
NG_006987.1:g.123866del
NG_006987.2:g.123866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3248del MANE Select	ENSP00000282516.8:p.Pro1083GlnfsTer?
ENST00000652901.1:c.3248del	ENSP00000499536.1:p.Pro1083GlnfsTer?
ENST00000282516.12:c.3248del	ENSP00000282516.8:p.Pro1083GlnfsTer?
ENST00000448238.2:c.3248del	ENSP00000406266.2:p.Pro1083GlnfsTer?
ENST00000503274.1:n.599del
ENST00000504430.5:n.2868del
ENST00000621733.1:c.1-68830del	ENSP00000480694.1:n.1-68830del
NM_015384.4:c.3248del	NP_056199.2:p.Pro1083GlnfsTer?
NM_133433.3:c.3248del	NP_597677.2:p.Pro1083GlnfsTer?
XM_005248280.2:c.3248del	XP_005248337.1:p.Pro1083GlnfsTer?
XM_005248282.3:c.2504del	XP_005248339.2:p.Pro835GlnfsTer?
XM_006714467.2:c.3248del	XP_006714530.1:p.Pro1083GlnfsTer?
XM_006714468.1:c.3248del	XP_006714531.1:p.Pro1083GlnfsTer24
XM_011514014.1:c.3122-5069del	XP_011512316.1:n.3122-5069del
XM_011514015.1:c.3248del	XP_011512317.1:p.Pro1083GlnfsTer?
XM_005248280.3:c.3248del	XP_005248337.1:p.Pro1083GlnfsTer?
XM_005248282.5:c.2588del	XP_005248339.3:p.Pro863GlnfsTer?
XM_006714468.2:c.3248del	XP_006714531.1:p.Pro1083GlnfsTer24
XM_017009329.1:c.3248del	XP_016864818.1:p.Pro1083GlnfsTer?
XM_017009330.2:c.1631del	XP_016864819.1:p.Pro544GlnfsTer?
XM_017009331.1:c.1622del	XP_016864820.1:p.Pro541GlnfsTer?
NM_133433.4:c.3248del MANE Select	NP_597677.2:p.Pro1083GlnfsTer?
NM_015384.5:c.3248del	NP_056199.2:p.Pro1083GlnfsTer?