Canonical Allele Identifier: CA117038296

Gene: NIPBL

Linked Data

• dbSNP Id: rs781566364
• gnomAD v4: 5-37038559-C-CT
• MyVariant Identifiers: chr5:g.37038661_37038662insT (hg19) ; chr5:g.37038559_37038560insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038561dup , CM000667.2:g.37038561dup	GRCh38
NC_000005.9:g.37038663dup , CM000667.1:g.37038663dup	GRCh37
NC_000005.8:g.37074420dup	NCBI36
NG_006987.1:g.166679dup
NG_006987.2:g.166679dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-41dup MANE Select	ENSP00000282516.8:n.5972-41dup
ENST00000652901.1:c.5972-41dup	ENSP00000499536.1:n.5972-41dup
ENST00000282516.12:c.5972-41dup	ENSP00000282516.8:n.5972-41dup
ENST00000448238.2:c.5972-41dup	ENSP00000406266.2:n.5972-41dup
ENST00000621733.1:c.1-26017dup	ENSP00000480694.1:n.1-26017dup
NM_015384.4:c.5972-41dup	NP_056199.2:n.5972-41dup
NM_133433.3:c.5972-41dup	NP_597677.2:n.5972-41dup
XM_005248280.2:c.5972-41dup	XP_005248337.1:n.5972-41dup
XM_005248282.3:c.5228-41dup	XP_005248339.2:n.5228-41dup
XM_006714467.2:c.5972-41dup	XP_006714530.1:n.5972-41dup
XM_006714468.1:c.5774-41dup	XP_006714531.1:n.5774-41dup
XM_011514014.1:c.5591-41dup	XP_011512316.1:n.5591-41dup
XM_011514015.1:c.5972-41dup	XP_011512317.1:n.5972-41dup
XM_005248280.3:c.5972-41dup	XP_005248337.1:n.5972-41dup
XM_005248282.5:c.5312-41dup	XP_005248339.3:n.5312-41dup
XM_006714468.2:c.5774-41dup	XP_006714531.1:n.5774-41dup
XM_017009329.1:c.5972-41dup	XP_016864818.1:n.5972-41dup
XM_017009330.2:c.4355-41dup	XP_016864819.1:n.4355-41dup
XM_017009331.1:c.4346-41dup	XP_016864820.1:n.4346-41dup
NM_133433.4:c.5972-41dup MANE Select	NP_597677.2:n.5972-41dup
NM_015384.5:c.5972-41dup	NP_056199.2:n.5972-41dup