Canonical Allele Identifier: CA117022686

Gene: NIPBL

Linked Data

• dbSNP Id: rs918998996
• gnomAD v3: 5-36958269-G-GAT
• gnomAD v4: 5-36958269-G-GAT
• MyVariant Identifiers: chr5:g.36958371_36958372insAT (hg19) ; chr5:g.36958269_36958270insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958269_36958270insAT , CM000667.2:g.36958269_36958270insAT	GRCh38
NC_000005.9:g.36958371_36958372insAT , CM000667.1:g.36958371_36958372insAT	GRCh37
NC_000005.8:g.36994128_36994129insAT	NCBI36
NG_006987.1:g.86387_86388insAT
NG_006987.2:g.86387_86388insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.358+38_358+39insAT MANE Select	ENSP00000282516.8:n.358+38_358+39insAT
ENST00000652901.1:c.358+38_358+39insAT	ENSP00000499536.1:n.358+38_358+39insAT
ENST00000282516.12:c.358+38_358+39insAT	ENSP00000282516.8:n.358+38_358+39insAT
ENST00000448238.2:c.358+38_358+39insAT	ENSP00000406266.2:n.358+38_358+39insAT
ENST00000505998.5:n.337+38_337+39insAT
ENST00000621733.1:c.-1+81247_-1+81248insAT	ENSP00000480694.1:n.-1+81247_-1+81248insAT
NM_015384.4:c.358+38_358+39insAT	NP_056199.2:n.358+38_358+39insAT
NM_133433.3:c.358+38_358+39insAT	NP_597677.2:n.358+38_358+39insAT
XM_005248280.2:c.358+38_358+39insAT	XP_005248337.1:n.358+38_358+39insAT
XM_006714467.2:c.358+38_358+39insAT	XP_006714530.1:n.358+38_358+39insAT
XM_006714468.1:c.358+38_358+39insAT	XP_006714531.1:n.358+38_358+39insAT
XM_011514014.1:c.358+38_358+39insAT	XP_011512316.1:n.358+38_358+39insAT
XM_011514015.1:c.358+38_358+39insAT	XP_011512317.1:n.358+38_358+39insAT
XM_005248280.3:c.358+38_358+39insAT	XP_005248337.1:n.358+38_358+39insAT
XM_006714468.2:c.358+38_358+39insAT	XP_006714531.1:n.358+38_358+39insAT
XM_017009329.1:c.358+38_358+39insAT	XP_016864818.1:n.358+38_358+39insAT
XM_017009331.1:c.358+38_358+39insAT	XP_016864820.1:n.358+38_358+39insAT
NM_133433.4:c.358+38_358+39insAT MANE Select	NP_597677.2:n.358+38_358+39insAT
NM_015384.5:c.358+38_358+39insAT	NP_056199.2:n.358+38_358+39insAT