Canonical Allele Identifier: CA2697547123

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2708858
• ClinVar RCV Id: RCV003498945

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016164_37016165del , CM000667.2:g.37016164_37016165del	GRCh38
NC_000005.9:g.37016266_37016267del , CM000667.1:g.37016266_37016267del	GRCh37
NC_000005.8:g.37052023_37052024del	NCBI36
NG_006987.1:g.144282_144283del
NG_006987.2:g.144282_144283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4770_4771del MANE Select	ENSP00000282516.8:p.Arg1590SerfsTer8
ENST00000652901.1:c.4770_4771del	ENSP00000499536.1:p.Arg1590SerfsTer8
ENST00000282516.12:c.4770_4771del	ENSP00000282516.8:p.Arg1590SerfsTer8
ENST00000448238.2:c.4770_4771del	ENSP00000406266.2:p.Arg1590SerfsTer8
ENST00000621733.1:c.1-48414_1-48413del	ENSP00000480694.1:n.1-48414_1-48413del
NM_015384.4:c.4770_4771del	NP_056199.2:p.Arg1590SerfsTer8
NM_133433.3:c.4770_4771del	NP_597677.2:p.Arg1590SerfsTer8
XM_005248280.2:c.4770_4771del	XP_005248337.1:p.Arg1590SerfsTer8
XM_005248282.3:c.4026_4027del	XP_005248339.2:p.Arg1342SerfsTer8
XM_006714467.2:c.4770_4771del	XP_006714530.1:p.Arg1590SerfsTer8
XM_006714468.1:c.4572_4573del	XP_006714531.1:p.Arg1524SerfsTer8
XM_011514014.1:c.4389_4390del	XP_011512316.1:p.Arg1463SerfsTer8
XM_011514015.1:c.4770_4771del	XP_011512317.1:p.Arg1590SerfsTer8
XM_005248280.3:c.4770_4771del	XP_005248337.1:p.Arg1590SerfsTer8
XM_005248282.5:c.4110_4111del	XP_005248339.3:p.Arg1370SerfsTer8
XM_006714468.2:c.4572_4573del	XP_006714531.1:p.Arg1524SerfsTer8
XM_017009329.1:c.4770_4771del	XP_016864818.1:p.Arg1590SerfsTer8
XM_017009330.2:c.3153_3154del	XP_016864819.1:p.Arg1051SerfsTer8
XM_017009331.1:c.3144_3145del	XP_016864820.1:p.Arg1048SerfsTer8
NM_133433.4:c.4770_4771del MANE Select	NP_597677.2:p.Arg1590SerfsTer8
NM_015384.5:c.4770_4771del	NP_056199.2:p.Arg1590SerfsTer8