Canonical Allele Identifier: CA2673575745

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052271-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052271_37052272insG , CM000667.2:g.37052271_37052272insG	GRCh38
NC_000005.9:g.37052373_37052374insG , CM000667.1:g.37052373_37052374insG	GRCh37
NC_000005.8:g.37088130_37088131insG	NCBI36
NG_006987.1:g.180389_180390insG
NG_006987.2:g.180389_180390insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7063-95_7063-94insG MANE Select	ENSP00000282516.8:n.7063-95_7063-94insG
ENST00000652901.1:c.7063-95_7063-94insG	ENSP00000499536.1:n.7063-95_7063-94insG
ENST00000282516.12:c.7063-95_7063-94insG	ENSP00000282516.8:n.7063-95_7063-94insG
ENST00000448238.2:c.7063-95_7063-94insG	ENSP00000406266.2:n.7063-95_7063-94insG
ENST00000514335.1:n.945-95_945-94insG
ENST00000621733.1:c.1-12307_1-12306insG	ENSP00000480694.1:n.1-12307_1-12306insG
NM_015384.4:c.7063-95_7063-94insG	NP_056199.2:n.7063-95_7063-94insG
NM_133433.3:c.7063-95_7063-94insG	NP_597677.2:n.7063-95_7063-94insG
XM_005248280.2:c.7063-95_7063-94insG	XP_005248337.1:n.7063-95_7063-94insG
XM_005248282.3:c.6319-95_6319-94insG	XP_005248339.2:n.6319-95_6319-94insG
XM_006714467.2:c.7063-95_7063-94insG	XP_006714530.1:n.7063-95_7063-94insG
XM_006714468.1:c.6865-95_6865-94insG	XP_006714531.1:n.6865-95_6865-94insG
XM_011514014.1:c.6682-95_6682-94insG	XP_011512316.1:n.6682-95_6682-94insG
XM_011514015.1:c.7063-95_7063-94insG	XP_011512317.1:n.7063-95_7063-94insG
XM_005248280.3:c.7063-95_7063-94insG	XP_005248337.1:n.7063-95_7063-94insG
XM_005248282.5:c.6403-95_6403-94insG	XP_005248339.3:n.6403-95_6403-94insG
XM_006714468.2:c.6865-95_6865-94insG	XP_006714531.1:n.6865-95_6865-94insG
XM_017009329.1:c.7063-95_7063-94insG	XP_016864818.1:n.7063-95_7063-94insG
XM_017009330.2:c.5446-95_5446-94insG	XP_016864819.1:n.5446-95_5446-94insG
XM_017009331.1:c.5437-95_5437-94insG	XP_016864820.1:n.5437-95_5437-94insG
NM_133433.4:c.7063-95_7063-94insG MANE Select	NP_597677.2:n.7063-95_7063-94insG
NM_015384.5:c.7063-95_7063-94insG	NP_056199.2:n.7063-95_7063-94insG