Canonical Allele Identifier: CA2673581655

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37045692-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045693dup , CM000667.2:g.37045693dup	GRCh38
NC_000005.9:g.37045795dup , CM000667.1:g.37045795dup	GRCh37
NC_000005.8:g.37081552dup	NCBI36
NG_006987.1:g.173811dup
NG_006987.2:g.173811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6498+96dup MANE Select	ENSP00000282516.8:n.6498+96dup
ENST00000652901.1:c.6498+96dup	ENSP00000499536.1:n.6498+96dup
ENST00000282516.12:c.6498+96dup	ENSP00000282516.8:n.6498+96dup
ENST00000448238.2:c.6498+96dup	ENSP00000406266.2:n.6498+96dup
ENST00000621733.1:c.1-18885dup	ENSP00000480694.1:n.1-18885dup
NM_015384.4:c.6498+96dup	NP_056199.2:n.6498+96dup
NM_133433.3:c.6498+96dup	NP_597677.2:n.6498+96dup
XM_005248280.2:c.6498+96dup	XP_005248337.1:n.6498+96dup
XM_005248282.3:c.5754+96dup	XP_005248339.2:n.5754+96dup
XM_006714467.2:c.6498+96dup	XP_006714530.1:n.6498+96dup
XM_006714468.1:c.6300+96dup	XP_006714531.1:n.6300+96dup
XM_011514014.1:c.6117+96dup	XP_011512316.1:n.6117+96dup
XM_011514015.1:c.6498+96dup	XP_011512317.1:n.6498+96dup
XM_005248280.3:c.6498+96dup	XP_005248337.1:n.6498+96dup
XM_005248282.5:c.5838+96dup	XP_005248339.3:n.5838+96dup
XM_006714468.2:c.6300+96dup	XP_006714531.1:n.6300+96dup
XM_017009329.1:c.6498+96dup	XP_016864818.1:n.6498+96dup
XM_017009330.2:c.4881+96dup	XP_016864819.1:n.4881+96dup
XM_017009331.1:c.4872+96dup	XP_016864820.1:n.4872+96dup
NM_133433.4:c.6498+96dup MANE Select	NP_597677.2:n.6498+96dup
NM_015384.5:c.6498+96dup	NP_056199.2:n.6498+96dup