Canonical Allele Identifier: CA1539581480

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985305_36985308delinsAGCC , CM000667.2:g.36985305_36985308delinsAGCC	GRCh38
NC_000005.9:g.36985407_36985410delinsAGCC , CM000667.1:g.36985407_36985410delinsAGCC	GRCh37
NC_000005.8:g.37021164_37021167delinsAGCC	NCBI36
NG_006987.1:g.113423_113426delinsAGCC
NG_006987.2:g.113423_113426delinsAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2125_2128delinsAGCC MANE Select	ENSP00000282516.8:p.Ser709=
ENST00000652901.1:c.2125_2128delinsAGCC	ENSP00000499536.1:p.Ser709=
ENST00000282516.12:c.2125_2128delinsAGCC	ENSP00000282516.8:p.Ser709=
ENST00000448238.2:c.2125_2128delinsAGCC	ENSP00000406266.2:p.Ser709=
ENST00000504430.5:n.1745_1748delinsAGCC
ENST00000621733.1:c.1-79273_1-79270delinsAGCC	ENSP00000480694.1:n.1-79273_1-79270delinsAGCC
NM_015384.4:c.2125_2128delinsAGCC	NP_056199.2:p.Ser709=
NM_133433.3:c.2125_2128delinsAGCC	NP_597677.2:p.Ser709=
XM_005248280.2:c.2125_2128delinsAGCC	XP_005248337.1:p.Ser709=
XM_005248282.3:c.1381_1384delinsAGCC	XP_005248339.2:p.Ser461=
XM_006714467.2:c.2125_2128delinsAGCC	XP_006714530.1:p.Ser709=
XM_006714468.1:c.2125_2128delinsAGCC	XP_006714531.1:p.Ser709=
XM_011514014.1:c.2125_2128delinsAGCC	XP_011512316.1:p.Ser709=
XM_011514015.1:c.2125_2128delinsAGCC	XP_011512317.1:p.Ser709=
XM_005248280.3:c.2125_2128delinsAGCC	XP_005248337.1:p.Ser709=
XM_005248282.5:c.1465_1468delinsAGCC	XP_005248339.3:p.Ser489=
XM_006714468.2:c.2125_2128delinsAGCC	XP_006714531.1:p.Ser709=
XM_017009329.1:c.2125_2128delinsAGCC	XP_016864818.1:p.Ser709=
XM_017009330.2:c.508_511delinsAGCC	XP_016864819.1:p.Ser170=
XM_017009331.1:c.1495+8903_1495+8906delinsAGCC	XP_016864820.1:n.1495+8903_1495+8906delinsAGCC
NM_133433.4:c.2125_2128delinsAGCC MANE Select	NP_597677.2:p.Ser709=
NM_015384.5:c.2125_2128delinsAGCC	NP_056199.2:p.Ser709=