Canonical Allele Identifier: CA810284433

Gene: NIPBL

Linked Data

• dbSNP Id: rs1430908548
• gnomAD v3: 5-37052270-A-AG
• gnomAD v4: 5-37052270-A-AG
• MyVariant Identifiers: chr5:g.37052372_37052373insG (hg19) ; chr5:g.37052270_37052271insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052270_37052271insG , CM000667.2:g.37052270_37052271insG	GRCh38
NC_000005.9:g.37052372_37052373insG , CM000667.1:g.37052372_37052373insG	GRCh37
NC_000005.8:g.37088129_37088130insG	NCBI36
NG_006987.1:g.180388_180389insG
NG_006987.2:g.180388_180389insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7063-96_7063-95insG MANE Select	ENSP00000282516.8:n.7063-96_7063-95insG
ENST00000652901.1:c.7063-96_7063-95insG	ENSP00000499536.1:n.7063-96_7063-95insG
ENST00000282516.12:c.7063-96_7063-95insG	ENSP00000282516.8:n.7063-96_7063-95insG
ENST00000448238.2:c.7063-96_7063-95insG	ENSP00000406266.2:n.7063-96_7063-95insG
ENST00000514335.1:n.945-96_945-95insG
ENST00000621733.1:c.1-12308_1-12307insG	ENSP00000480694.1:n.1-12308_1-12307insG
NM_015384.4:c.7063-96_7063-95insG	NP_056199.2:n.7063-96_7063-95insG
NM_133433.3:c.7063-96_7063-95insG	NP_597677.2:n.7063-96_7063-95insG
XM_005248280.2:c.7063-96_7063-95insG	XP_005248337.1:n.7063-96_7063-95insG
XM_005248282.3:c.6319-96_6319-95insG	XP_005248339.2:n.6319-96_6319-95insG
XM_006714467.2:c.7063-96_7063-95insG	XP_006714530.1:n.7063-96_7063-95insG
XM_006714468.1:c.6865-96_6865-95insG	XP_006714531.1:n.6865-96_6865-95insG
XM_011514014.1:c.6682-96_6682-95insG	XP_011512316.1:n.6682-96_6682-95insG
XM_011514015.1:c.7063-96_7063-95insG	XP_011512317.1:n.7063-96_7063-95insG
XM_005248280.3:c.7063-96_7063-95insG	XP_005248337.1:n.7063-96_7063-95insG
XM_005248282.5:c.6403-96_6403-95insG	XP_005248339.3:n.6403-96_6403-95insG
XM_006714468.2:c.6865-96_6865-95insG	XP_006714531.1:n.6865-96_6865-95insG
XM_017009329.1:c.7063-96_7063-95insG	XP_016864818.1:n.7063-96_7063-95insG
XM_017009330.2:c.5446-96_5446-95insG	XP_016864819.1:n.5446-96_5446-95insG
XM_017009331.1:c.5437-96_5437-95insG	XP_016864820.1:n.5437-96_5437-95insG
NM_133433.4:c.7063-96_7063-95insG MANE Select	NP_597677.2:n.7063-96_7063-95insG
NM_015384.5:c.7063-96_7063-95insG	NP_056199.2:n.7063-96_7063-95insG