Canonical Allele Identifier: CA1539582727

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060641_37060642delinsTG , CM000667.2:g.37060641_37060642delinsTG	GRCh38
NC_000005.9:g.37060743_37060744delinsTG , CM000667.1:g.37060743_37060744delinsTG	GRCh37
NC_000005.8:g.37096500_37096501delinsTG	NCBI36
NG_006987.1:g.188759_188760delinsTG
NG_006987.2:g.188759_188760delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7686-203_7686-202delinsTG MANE Select	ENSP00000282516.8:n.7686-203_7686-202delinsTG
ENST00000652901.1:c.7539-203_7539-202delinsTG	ENSP00000499536.1:n.7539-203_7539-202delinsTG
ENST00000282516.12:c.7686-203_7686-202delinsTG	ENSP00000282516.8:n.7686-203_7686-202delinsTG
ENST00000448238.2:c.7686-203_7686-202delinsTG	ENSP00000406266.2:n.7686-203_7686-202delinsTG
ENST00000513819.1:c.263+1476_263+1477delinsTG	ENSP00000421504.1:n.263+1476_263+1477delinsTG
ENST00000514335.1:n.1568-203_1568-202delinsTG
ENST00000621733.1:c.1-3937_1-3936delinsTG	ENSP00000480694.1:n.1-3937_1-3936delinsTG
NM_015384.4:c.7686-203_7686-202delinsTG	NP_056199.2:n.7686-203_7686-202delinsTG
NM_133433.3:c.7686-203_7686-202delinsTG	NP_597677.2:n.7686-203_7686-202delinsTG
XM_005248280.2:c.7686-203_7686-202delinsTG	XP_005248337.1:n.7686-203_7686-202delinsTG
XM_005248282.3:c.6942-203_6942-202delinsTG	XP_005248339.2:n.6942-203_6942-202delinsTG
XM_006714467.2:c.7539-203_7539-202delinsTG	XP_006714530.1:n.7539-203_7539-202delinsTG
XM_006714468.1:c.7488-203_7488-202delinsTG	XP_006714531.1:n.7488-203_7488-202delinsTG
XM_011514014.1:c.7305-203_7305-202delinsTG	XP_011512316.1:n.7305-203_7305-202delinsTG
XM_011514015.1:c.7264-203_7264-202delinsTG	XP_011512317.1:n.7264-203_7264-202delinsTG
XM_005248280.3:c.7686-203_7686-202delinsTG	XP_005248337.1:n.7686-203_7686-202delinsTG
XM_005248282.5:c.7026-203_7026-202delinsTG	XP_005248339.3:n.7026-203_7026-202delinsTG
XM_006714468.2:c.7488-203_7488-202delinsTG	XP_006714531.1:n.7488-203_7488-202delinsTG
XM_017009329.1:c.7539-203_7539-202delinsTG	XP_016864818.1:n.7539-203_7539-202delinsTG
XM_017009330.2:c.6069-203_6069-202delinsTG	XP_016864819.1:n.6069-203_6069-202delinsTG
XM_017009331.1:c.6060-203_6060-202delinsTG	XP_016864820.1:n.6060-203_6060-202delinsTG
NM_133433.4:c.7686-203_7686-202delinsTG MANE Select	NP_597677.2:n.7686-203_7686-202delinsTG
NM_015384.5:c.7686-203_7686-202delinsTG	NP_056199.2:n.7686-203_7686-202delinsTG