Canonical Allele Identifier: CA117022701

Gene: NIPBL

Linked Data

• dbSNP Id: rs752079489
• gnomAD v2: 5-36958401-C-CT
• gnomAD v3: 5-36958299-C-CT
• gnomAD v4: 5-36958299-C-CT
• MyVariant Identifiers: chr5:g.36958401_36958402insT (hg19) ; chr5:g.36958299_36958300insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958302dup , CM000667.2:g.36958302dup	GRCh38
NC_000005.9:g.36958404dup , CM000667.1:g.36958404dup	GRCh37
NC_000005.8:g.36994161dup	NCBI36
NG_006987.1:g.86420dup
NG_006987.2:g.86420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.358+71dup MANE Select	ENSP00000282516.8:n.358+71dup
ENST00000652901.1:c.358+71dup	ENSP00000499536.1:n.358+71dup
ENST00000282516.12:c.358+71dup	ENSP00000282516.8:n.358+71dup
ENST00000448238.2:c.358+71dup	ENSP00000406266.2:n.358+71dup
ENST00000505998.5:n.337+71dup
ENST00000621733.1:c.-1+81280dup	ENSP00000480694.1:n.-1+81280dup
NM_015384.4:c.358+71dup	NP_056199.2:n.358+71dup
NM_133433.3:c.358+71dup	NP_597677.2:n.358+71dup
XM_005248280.2:c.358+71dup	XP_005248337.1:n.358+71dup
XM_006714467.2:c.358+71dup	XP_006714530.1:n.358+71dup
XM_006714468.1:c.358+71dup	XP_006714531.1:n.358+71dup
XM_011514014.1:c.358+71dup	XP_011512316.1:n.358+71dup
XM_011514015.1:c.358+71dup	XP_011512317.1:n.358+71dup
XM_005248280.3:c.358+71dup	XP_005248337.1:n.358+71dup
XM_006714468.2:c.358+71dup	XP_006714531.1:n.358+71dup
XM_017009329.1:c.358+71dup	XP_016864818.1:n.358+71dup
XM_017009331.1:c.358+71dup	XP_016864820.1:n.358+71dup
NM_133433.4:c.358+71dup MANE Select	NP_597677.2:n.358+71dup
NM_015384.5:c.358+71dup	NP_056199.2:n.358+71dup