Canonical Allele Identifier: CA1539581864

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985469_36985470delinsCA , CM000667.2:g.36985469_36985470delinsCA	GRCh38
NC_000005.9:g.36985571_36985572delinsCA , CM000667.1:g.36985571_36985572delinsCA	GRCh37
NC_000005.8:g.37021328_37021329delinsCA	NCBI36
NG_006987.1:g.113587_113588delinsCA
NG_006987.2:g.113587_113588delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2289_2290delinsCA MANE Select	ENSP00000282516.8:p.Asp763=
ENST00000652901.1:c.2289_2290delinsCA	ENSP00000499536.1:p.Asp763=
ENST00000282516.12:c.2289_2290delinsCA	ENSP00000282516.8:p.Asp763=
ENST00000448238.2:c.2289_2290delinsCA	ENSP00000406266.2:p.Asp763=
ENST00000504430.5:n.1909_1910delinsCA
ENST00000621733.1:c.1-79109_1-79108delinsCA	ENSP00000480694.1:n.1-79109_1-79108delins...
NM_015384.4:c.2289_2290delinsCA	NP_056199.2:p.Asp763=
NM_133433.3:c.2289_2290delinsCA	NP_597677.2:p.Asp763=
XM_005248280.2:c.2289_2290delinsCA	XP_005248337.1:p.Asp763=
XM_005248282.3:c.1545_1546delinsCA	XP_005248339.2:p.Asp515=
XM_006714467.2:c.2289_2290delinsCA	XP_006714530.1:p.Asp763=
XM_006714468.1:c.2289_2290delinsCA	XP_006714531.1:p.Asp763=
XM_011514014.1:c.2289_2290delinsCA	XP_011512316.1:p.Asp763=
XM_011514015.1:c.2289_2290delinsCA	XP_011512317.1:p.Asp763=
XM_005248280.3:c.2289_2290delinsCA	XP_005248337.1:p.Asp763=
XM_005248282.5:c.1629_1630delinsCA	XP_005248339.3:p.Asp543=
XM_006714468.2:c.2289_2290delinsCA	XP_006714531.1:p.Asp763=
XM_017009329.1:c.2289_2290delinsCA	XP_016864818.1:p.Asp763=
XM_017009330.2:c.672_673delinsCA	XP_016864819.1:p.Asp224=
XM_017009331.1:c.1495+9067_1495+9068delinsCA	XP_016864820.1:n.1495+9067_1495+9068delin...
NM_133433.4:c.2289_2290delinsCA MANE Select	NP_597677.2:p.Asp763=
NM_015384.5:c.2289_2290delinsCA	NP_056199.2:p.Asp763=