Canonical Allele Identifier: CA1539583015

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986017_36986020delinsTGGG , CM000667.2:g.36986017_36986020delinsTGGG	GRCh38
NC_000005.9:g.36986119_36986122delinsTGGG , CM000667.1:g.36986119_36986122delinsTGGG	GRCh37
NC_000005.8:g.37021876_37021879delinsTGGG	NCBI36
NG_006987.1:g.114135_114138delinsTGGG
NG_006987.2:g.114135_114138delinsTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2837_2840delinsTGGG MANE Select	ENSP00000282516.8:p.Leu946=
ENST00000652901.1:c.2837_2840delinsTGGG	ENSP00000499536.1:p.Leu946=
ENST00000282516.12:c.2837_2840delinsTGGG	ENSP00000282516.8:p.Leu946=
ENST00000448238.2:c.2837_2840delinsTGGG	ENSP00000406266.2:p.Leu946=
ENST00000504430.5:n.2457_2460delinsTGGG
ENST00000621733.1:c.1-78561_1-78558delinsTGGG	ENSP00000480694.1:n.1-78561_1-78558delinsTGGG
NM_015384.4:c.2837_2840delinsTGGG	NP_056199.2:p.Leu946=
NM_133433.3:c.2837_2840delinsTGGG	NP_597677.2:p.Leu946=
XM_005248280.2:c.2837_2840delinsTGGG	XP_005248337.1:p.Leu946=
XM_005248282.3:c.2093_2096delinsTGGG	XP_005248339.2:p.Leu698=
XM_006714467.2:c.2837_2840delinsTGGG	XP_006714530.1:p.Leu946=
XM_006714468.1:c.2837_2840delinsTGGG	XP_006714531.1:p.Leu946=
XM_011514014.1:c.2837_2840delinsTGGG	XP_011512316.1:p.Leu946=
XM_011514015.1:c.2837_2840delinsTGGG	XP_011512317.1:p.Leu946=
XM_005248280.3:c.2837_2840delinsTGGG	XP_005248337.1:p.Leu946=
XM_005248282.5:c.2177_2180delinsTGGG	XP_005248339.3:p.Leu726=
XM_006714468.2:c.2837_2840delinsTGGG	XP_006714531.1:p.Leu946=
XM_017009329.1:c.2837_2840delinsTGGG	XP_016864818.1:p.Leu946=
XM_017009330.2:c.1220_1223delinsTGGG	XP_016864819.1:p.Leu407=
XM_017009331.1:c.1496-9605_1496-9602delinsTGGG	XP_016864820.1:n.1496-9605_1496-9602delinsTGGG
NM_133433.4:c.2837_2840delinsTGGG MANE Select	NP_597677.2:p.Leu946=
NM_015384.5:c.2837_2840delinsTGGG	NP_056199.2:p.Leu946=