Canonical Allele Identifier: CA1539581457

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985297_36985298delinsAG , CM000667.2:g.36985297_36985298delinsAG	GRCh38
NC_000005.9:g.36985399_36985400delinsAG , CM000667.1:g.36985399_36985400delinsAG	GRCh37
NC_000005.8:g.37021156_37021157delinsAG	NCBI36
NG_006987.1:g.113415_113416delinsAG
NG_006987.2:g.113415_113416delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2117_2118delinsAG MANE Select	ENSP00000282516.8:p.Lys706=
ENST00000652901.1:c.2117_2118delinsAG	ENSP00000499536.1:p.Lys706=
ENST00000282516.12:c.2117_2118delinsAG	ENSP00000282516.8:p.Lys706=
ENST00000448238.2:c.2117_2118delinsAG	ENSP00000406266.2:p.Lys706=
ENST00000504430.5:n.1737_1738delinsAG
ENST00000621733.1:c.1-79281_1-79280delinsAG	ENSP00000480694.1:n.1-79281_1-79280delinsAG
NM_015384.4:c.2117_2118delinsAG	NP_056199.2:p.Lys706=
NM_133433.3:c.2117_2118delinsAG	NP_597677.2:p.Lys706=
XM_005248280.2:c.2117_2118delinsAG	XP_005248337.1:p.Lys706=
XM_005248282.3:c.1373_1374delinsAG	XP_005248339.2:p.Lys458=
XM_006714467.2:c.2117_2118delinsAG	XP_006714530.1:p.Lys706=
XM_006714468.1:c.2117_2118delinsAG	XP_006714531.1:p.Lys706=
XM_011514014.1:c.2117_2118delinsAG	XP_011512316.1:p.Lys706=
XM_011514015.1:c.2117_2118delinsAG	XP_011512317.1:p.Lys706=
XM_005248280.3:c.2117_2118delinsAG	XP_005248337.1:p.Lys706=
XM_005248282.5:c.1457_1458delinsAG	XP_005248339.3:p.Lys486=
XM_006714468.2:c.2117_2118delinsAG	XP_006714531.1:p.Lys706=
XM_017009329.1:c.2117_2118delinsAG	XP_016864818.1:p.Lys706=
XM_017009330.2:c.500_501delinsAG	XP_016864819.1:p.Lys167=
XM_017009331.1:c.1495+8895_1495+8896delinsAG	XP_016864820.1:n.1495+8895_1495+8896delinsAG
NM_133433.4:c.2117_2118delinsAG MANE Select	NP_597677.2:p.Lys706=
NM_015384.5:c.2117_2118delinsAG	NP_056199.2:p.Lys706=