Canonical Allele Identifier: CA1539603691

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37003290_37003305delinsAAATATCTTGGAGAAG , CM000667.2:g.37003290_37003305delinsAAATATCTTGGAGAAG	GRCh38
NC_000005.9:g.37003392_37003407delinsAAATATCTTGGAGAAG , CM000667.1:g.37003392_37003407delinsAAATATCTTGGAGAAG	GRCh37
NC_000005.8:g.37039149_37039164delinsAAATATCTTGGAGAAG	NCBI36
NG_006987.1:g.131408_131423delinsAAATATCTTGGAGAAG
NG_006987.2:g.131408_131423delinsAAATATCTTGGAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3798_3813delinsAAATATCTTGGAGAAG MANE Select	ENSP00000282516.8:p.Leu1266=
ENST00000652901.1:c.3798_3813delinsAAATATCTTGGAGAAG	ENSP00000499536.1:p.Leu1266=
ENST00000282516.12:c.3798_3813delinsAAATATCTTGGAGAAG	ENSP00000282516.8:p.Leu1266=
ENST00000448238.2:c.3798_3813delinsAAATATCTTGGAGAAG	ENSP00000406266.2:p.Leu1266=
ENST00000621733.1:c.1-61288_1-61273delinsAAATATCTTGGAGAAG	ENSP00000480694.1:n.1-61288_1-61273delinsAAATATCTTGGAGAAG
NM_015384.4:c.3798_3813delinsAAATATCTTGGAGAAG	NP_056199.2:p.Leu1266=
NM_133433.3:c.3798_3813delinsAAATATCTTGGAGAAG	NP_597677.2:p.Leu1266=
XM_005248280.2:c.3798_3813delinsAAATATCTTGGAGAAG	XP_005248337.1:p.Leu1266=
XM_005248282.3:c.3054_3069delinsAAATATCTTGGAGAAG	XP_005248339.2:p.Leu1018=
XM_006714467.2:c.3798_3813delinsAAATATCTTGGAGAAG	XP_006714530.1:p.Leu1266=
XM_006714468.1:c.3600_3615delinsAAATATCTTGGAGAAG	XP_006714531.1:p.Leu1200=
XM_011514014.1:c.3417_3432delinsAAATATCTTGGAGAAG	XP_011512316.1:p.Leu1139=
XM_011514015.1:c.3798_3813delinsAAATATCTTGGAGAAG	XP_011512317.1:p.Leu1266=
XM_005248280.3:c.3798_3813delinsAAATATCTTGGAGAAG	XP_005248337.1:p.Leu1266=
XM_005248282.5:c.3138_3153delinsAAATATCTTGGAGAAG	XP_005248339.3:p.Leu1046=
XM_006714468.2:c.3600_3615delinsAAATATCTTGGAGAAG	XP_006714531.1:p.Leu1200=
XM_017009329.1:c.3798_3813delinsAAATATCTTGGAGAAG	XP_016864818.1:p.Leu1266=
XM_017009330.2:c.2181_2196delinsAAATATCTTGGAGAAG	XP_016864819.1:p.Leu727=
XM_017009331.1:c.2172_2187delinsAAATATCTTGGAGAAG	XP_016864820.1:p.Leu724=
NM_133433.4:c.3798_3813delinsAAATATCTTGGAGAAG MANE Select	NP_597677.2:p.Leu1266=
NM_015384.5:c.3798_3813delinsAAATATCTTGGAGAAG	NP_056199.2:p.Leu1266=