Canonical Allele Identifier: CA1075102150

Gene: NIPBL

Linked Data

• dbSNP Id: rs1754582007
• gnomAD v3: 5-37060788-T-TC
• gnomAD v4: 5-37060788-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060790dup , CM000667.2:g.37060790dup	GRCh38
NC_000005.9:g.37060892dup , CM000667.1:g.37060892dup	GRCh37
NC_000005.8:g.37096649dup	NCBI36
NG_006987.1:g.188908dup
NG_006987.2:g.188908dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7686-54dup MANE Select	ENSP00000282516.8:n.7686-54dup
ENST00000652901.1:c.7539-54dup	ENSP00000499536.1:n.7539-54dup
ENST00000282516.12:c.7686-54dup	ENSP00000282516.8:n.7686-54dup
ENST00000448238.2:c.7686-54dup	ENSP00000406266.2:n.7686-54dup
ENST00000513819.1:c.263+1625dup	ENSP00000421504.1:n.263+1625dup
ENST00000514335.1:n.1568-54dup
ENST00000621733.1:c.1-3788dup	ENSP00000480694.1:n.1-3788dup
NM_015384.4:c.7686-54dup	NP_056199.2:n.7686-54dup
NM_133433.3:c.7686-54dup	NP_597677.2:n.7686-54dup
XM_005248280.2:c.7686-54dup	XP_005248337.1:n.7686-54dup
XM_005248282.3:c.6942-54dup	XP_005248339.2:n.6942-54dup
XM_006714467.2:c.7539-54dup	XP_006714530.1:n.7539-54dup
XM_006714468.1:c.7488-54dup	XP_006714531.1:n.7488-54dup
XM_011514014.1:c.7305-54dup	XP_011512316.1:n.7305-54dup
XM_011514015.1:c.7264-54dup	XP_011512317.1:n.7264-54dup
XM_005248280.3:c.7686-54dup	XP_005248337.1:n.7686-54dup
XM_005248282.5:c.7026-54dup	XP_005248339.3:n.7026-54dup
XM_006714468.2:c.7488-54dup	XP_006714531.1:n.7488-54dup
XM_017009329.1:c.7539-54dup	XP_016864818.1:n.7539-54dup
XM_017009330.2:c.6069-54dup	XP_016864819.1:n.6069-54dup
XM_017009331.1:c.6060-54dup	XP_016864820.1:n.6060-54dup
NM_133433.4:c.7686-54dup MANE Select	NP_597677.2:n.7686-54dup
NM_015384.5:c.7686-54dup	NP_056199.2:n.7686-54dup