Canonical Allele Identifier: CA1539619269

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020616_37020617delinsGA , CM000667.2:g.37020616_37020617delinsGA	GRCh38
NC_000005.9:g.37020718_37020719delinsGA , CM000667.1:g.37020718_37020719delinsGA	GRCh37
NC_000005.8:g.37056475_37056476delinsGA	NCBI36
NG_006987.1:g.148734_148735delinsGA
NG_006987.2:g.148734_148735delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5168_5169delinsGA MANE Select	ENSP00000282516.8:p.Arg1723=
ENST00000652901.1:c.5168_5169delinsGA	ENSP00000499536.1:p.Arg1723=
ENST00000282516.12:c.5168_5169delinsGA	ENSP00000282516.8:p.Arg1723=
ENST00000448238.2:c.5168_5169delinsGA	ENSP00000406266.2:p.Arg1723=
ENST00000621733.1:c.1-43962_1-43961delinsGA	ENSP00000480694.1:n.1-43962_1-43961delinsGA
NM_015384.4:c.5168_5169delinsGA	NP_056199.2:p.Arg1723=
NM_133433.3:c.5168_5169delinsGA	NP_597677.2:p.Arg1723=
XM_005248280.2:c.5168_5169delinsGA	XP_005248337.1:p.Arg1723=
XM_005248282.3:c.4424_4425delinsGA	XP_005248339.2:p.Arg1475=
XM_006714467.2:c.5168_5169delinsGA	XP_006714530.1:p.Arg1723=
XM_006714468.1:c.4970_4971delinsGA	XP_006714531.1:p.Arg1657=
XM_011514014.1:c.4787_4788delinsGA	XP_011512316.1:p.Arg1596=
XM_011514015.1:c.5168_5169delinsGA	XP_011512317.1:p.Arg1723=
XM_005248280.3:c.5168_5169delinsGA	XP_005248337.1:p.Arg1723=
XM_005248282.5:c.4508_4509delinsGA	XP_005248339.3:p.Arg1503=
XM_006714468.2:c.4970_4971delinsGA	XP_006714531.1:p.Arg1657=
XM_017009329.1:c.5168_5169delinsGA	XP_016864818.1:p.Arg1723=
XM_017009330.2:c.3551_3552delinsGA	XP_016864819.1:p.Arg1184=
XM_017009331.1:c.3542_3543delinsGA	XP_016864820.1:p.Arg1181=
NM_133433.4:c.5168_5169delinsGA MANE Select	NP_597677.2:p.Arg1723=
NM_015384.5:c.5168_5169delinsGA	NP_056199.2:p.Arg1723=