Canonical Allele Identifier: CA1539592872

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995746_36995747delinsGC , CM000667.2:g.36995746_36995747delinsGC	GRCh38
NC_000005.9:g.36995848_36995849delinsGC , CM000667.1:g.36995848_36995849delinsGC	GRCh37
NC_000005.8:g.37031605_37031606delinsGC	NCBI36
NG_006987.1:g.123864_123865delinsGC
NG_006987.2:g.123864_123865delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3246_3247delinsGC MANE Select	ENSP00000282516.8:p.Lys1082=
ENST00000652901.1:c.3246_3247delinsGC	ENSP00000499536.1:p.Lys1082=
ENST00000282516.12:c.3246_3247delinsGC	ENSP00000282516.8:p.Lys1082=
ENST00000448238.2:c.3246_3247delinsGC	ENSP00000406266.2:p.Lys1082=
ENST00000503274.1:n.597_598delinsGC
ENST00000504430.5:n.2866_2867delinsGC
ENST00000621733.1:c.1-68832_1-68831delinsGC	ENSP00000480694.1:n.1-68832_1-68831delinsGC
NM_015384.4:c.3246_3247delinsGC	NP_056199.2:p.Lys1082=
NM_133433.3:c.3246_3247delinsGC	NP_597677.2:p.Lys1082=
XM_005248280.2:c.3246_3247delinsGC	XP_005248337.1:p.Lys1082=
XM_005248282.3:c.2502_2503delinsGC	XP_005248339.2:p.Lys834=
XM_006714467.2:c.3246_3247delinsGC	XP_006714530.1:p.Lys1082=
XM_006714468.1:c.3246_3247delinsGC	XP_006714531.1:p.Lys1082=
XM_011514014.1:c.3122-5071_3122-5070delinsGC	XP_011512316.1:n.3122-5071_3122-5070delinsGC
XM_011514015.1:c.3246_3247delinsGC	XP_011512317.1:p.Lys1082=
XM_005248280.3:c.3246_3247delinsGC	XP_005248337.1:p.Lys1082=
XM_005248282.5:c.2586_2587delinsGC	XP_005248339.3:p.Lys862=
XM_006714468.2:c.3246_3247delinsGC	XP_006714531.1:p.Lys1082=
XM_017009329.1:c.3246_3247delinsGC	XP_016864818.1:p.Lys1082=
XM_017009330.2:c.1629_1630delinsGC	XP_016864819.1:p.Lys543=
XM_017009331.1:c.1620_1621delinsGC	XP_016864820.1:p.Lys540=
NM_133433.4:c.3246_3247delinsGC MANE Select	NP_597677.2:p.Lys1082=
NM_015384.5:c.3246_3247delinsGC	NP_056199.2:p.Lys1082=