Canonical Allele Identifier: CA1539611748

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038883_37038885delinsCTA , CM000667.2:g.37038883_37038885delinsCTA	GRCh38
NC_000005.9:g.37038985_37038987delinsCTA , CM000667.1:g.37038985_37038987delinsCTA	GRCh37
NC_000005.8:g.37074742_37074744delinsCTA	NCBI36
NG_006987.1:g.167001_167003delinsCTA
NG_006987.2:g.167001_167003delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6108+145_6108+147delinsCTA MANE Select	ENSP00000282516.8:n.6108+145_6108+147delinsCTA
ENST00000652901.1:c.6108+145_6108+147delinsCTA	ENSP00000499536.1:n.6108+145_6108+147delinsCTA
ENST00000282516.12:c.6108+145_6108+147delinsCTA	ENSP00000282516.8:n.6108+145_6108+147delinsCTA
ENST00000448238.2:c.6108+145_6108+147delinsCTA	ENSP00000406266.2:n.6108+145_6108+147delinsCTA
ENST00000621733.1:c.1-25695_1-25693delinsCTA	ENSP00000480694.1:n.1-25695_1-25693delinsCTA
NM_015384.4:c.6108+145_6108+147delinsCTA	NP_056199.2:n.6108+145_6108+147delinsCTA
NM_133433.3:c.6108+145_6108+147delinsCTA	NP_597677.2:n.6108+145_6108+147delinsCTA
XM_005248280.2:c.6108+145_6108+147delinsCTA	XP_005248337.1:n.6108+145_6108+147delinsCTA
XM_005248282.3:c.5364+145_5364+147delinsCTA	XP_005248339.2:n.5364+145_5364+147delinsCTA
XM_006714467.2:c.6108+145_6108+147delinsCTA	XP_006714530.1:n.6108+145_6108+147delinsCTA
XM_006714468.1:c.5910+145_5910+147delinsCTA	XP_006714531.1:n.5910+145_5910+147delinsCTA
XM_011514014.1:c.5727+145_5727+147delinsCTA	XP_011512316.1:n.5727+145_5727+147delinsCTA
XM_011514015.1:c.6108+145_6108+147delinsCTA	XP_011512317.1:n.6108+145_6108+147delinsCTA
XM_005248280.3:c.6108+145_6108+147delinsCTA	XP_005248337.1:n.6108+145_6108+147delinsCTA
XM_005248282.5:c.5448+145_5448+147delinsCTA	XP_005248339.3:n.5448+145_5448+147delinsCTA
XM_006714468.2:c.5910+145_5910+147delinsCTA	XP_006714531.1:n.5910+145_5910+147delinsCTA
XM_017009329.1:c.6108+145_6108+147delinsCTA	XP_016864818.1:n.6108+145_6108+147delinsCTA
XM_017009330.2:c.4491+145_4491+147delinsCTA	XP_016864819.1:n.4491+145_4491+147delinsCTA
XM_017009331.1:c.4482+145_4482+147delinsCTA	XP_016864820.1:n.4482+145_4482+147delinsCTA
NM_133433.4:c.6108+145_6108+147delinsCTA MANE Select	NP_597677.2:n.6108+145_6108+147delinsCTA
NM_015384.5:c.6108+145_6108+147delinsCTA	NP_056199.2:n.6108+145_6108+147delinsCTA