Canonical Allele Identifier: CA2673575791

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052616-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052617dup , CM000667.2:g.37052617dup	GRCh38
NC_000005.9:g.37052719dup , CM000667.1:g.37052719dup	GRCh37
NC_000005.8:g.37088476dup	NCBI36
NG_006987.1:g.180735dup
NG_006987.2:g.180735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7263+51dup MANE Select	ENSP00000282516.8:n.7263+51dup
ENST00000652901.1:c.7263+51dup	ENSP00000499536.1:n.7263+51dup
ENST00000282516.12:c.7263+51dup	ENSP00000282516.8:n.7263+51dup
ENST00000448238.2:c.7263+51dup	ENSP00000406266.2:n.7263+51dup
ENST00000514335.1:n.1145+51dup
ENST00000621733.1:c.1-11961dup	ENSP00000480694.1:n.1-11961dup
NM_015384.4:c.7263+51dup	NP_056199.2:n.7263+51dup
NM_133433.3:c.7263+51dup	NP_597677.2:n.7263+51dup
XM_005248280.2:c.7263+51dup	XP_005248337.1:n.7263+51dup
XM_005248282.3:c.6519+51dup	XP_005248339.2:n.6519+51dup
XM_006714467.2:c.7263+51dup	XP_006714530.1:n.7263+51dup
XM_006714468.1:c.7065+51dup	XP_006714531.1:n.7065+51dup
XM_011514014.1:c.6882+51dup	XP_011512316.1:n.6882+51dup
XM_011514015.1:c.7263+51dup	XP_011512317.1:n.7263+51dup
XM_005248280.3:c.7263+51dup	XP_005248337.1:n.7263+51dup
XM_005248282.5:c.6603+51dup	XP_005248339.3:n.6603+51dup
XM_006714468.2:c.7065+51dup	XP_006714531.1:n.7065+51dup
XM_017009329.1:c.7263+51dup	XP_016864818.1:n.7263+51dup
XM_017009330.2:c.5646+51dup	XP_016864819.1:n.5646+51dup
XM_017009331.1:c.5637+51dup	XP_016864820.1:n.5637+51dup
NM_133433.4:c.7263+51dup MANE Select	NP_597677.2:n.7263+51dup
NM_015384.5:c.7263+51dup	NP_056199.2:n.7263+51dup