Canonical Allele Identifier: CA2573139680

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1458980
• ClinVar RCV Id: RCV001975107
• dbSNP Id: rs34314728
• gnomAD v4: 5-36984686-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984693dup , CM000667.2:g.36984693dup	GRCh38
NC_000005.9:g.36984795dup , CM000667.1:g.36984795dup	GRCh37
NC_000005.8:g.37020552dup	NCBI36
NG_006987.1:g.112811dup
NG_006987.2:g.112811dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1513dup MANE Select	ENSP00000282516.8:p.Arg505LysfsTer17
ENST00000652901.1:c.1513dup	ENSP00000499536.1:p.Arg505LysfsTer17
ENST00000282516.12:c.1513dup	ENSP00000282516.8:p.Arg505LysfsTer17
ENST00000448238.2:c.1513dup	ENSP00000406266.2:p.Arg505LysfsTer17
ENST00000504430.5:n.1133dup
ENST00000621733.1:c.1-79885dup	ENSP00000480694.1:n.1-79885dup
NM_015384.4:c.1513dup	NP_056199.2:p.Arg505LysfsTer17
NM_133433.3:c.1513dup	NP_597677.2:p.Arg505LysfsTer17
XM_005248280.2:c.1513dup	XP_005248337.1:p.Arg505LysfsTer17
XM_005248282.3:c.769dup	XP_005248339.2:p.Arg257LysfsTer17
XM_006714467.2:c.1513dup	XP_006714530.1:p.Arg505LysfsTer17
XM_006714468.1:c.1513dup	XP_006714531.1:p.Arg505LysfsTer17
XM_011514014.1:c.1513dup	XP_011512316.1:p.Arg505LysfsTer17
XM_011514015.1:c.1513dup	XP_011512317.1:p.Arg505LysfsTer17
XM_005248280.3:c.1513dup	XP_005248337.1:p.Arg505LysfsTer17
XM_005248282.5:c.853dup	XP_005248339.3:p.Arg285LysfsTer17
XM_006714468.2:c.1513dup	XP_006714531.1:p.Arg505LysfsTer17
XM_017009329.1:c.1513dup	XP_016864818.1:p.Arg505LysfsTer17
XM_017009330.2:c.-105dup	XP_016864819.1:n.-105dup
XM_017009331.1:c.1495+8291dup	XP_016864820.1:n.1495+8291dup
NM_133433.4:c.1513dup MANE Select	NP_597677.2:p.Arg505LysfsTer17
NM_015384.5:c.1513dup	NP_056199.2:p.Arg505LysfsTer17