Canonical Allele Identifier: CA916082698

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 842418
• ClinVar RCV Id: RCV001044837
• dbSNP Id: rs1748964402

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016143_37016145dup , CM000667.2:g.37016143_37016145dup	GRCh38
NC_000005.9:g.37016245_37016247dup , CM000667.1:g.37016245_37016247dup	GRCh37
NC_000005.8:g.37052002_37052004dup	NCBI36
NG_006987.1:g.144261_144263dup
NG_006987.2:g.144261_144263dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4749_4751dup MANE Select	ENSP00000282516.8:p.Leu1584_Leu1585insLeu
ENST00000652901.1:c.4749_4751dup	ENSP00000499536.1:p.Leu1584_Leu1585insLeu
ENST00000282516.12:c.4749_4751dup	ENSP00000282516.8:p.Leu1584_Leu1585insLeu
ENST00000448238.2:c.4749_4751dup	ENSP00000406266.2:p.Leu1584_Leu1585insLeu
ENST00000621733.1:c.1-48435_1-48433dup	ENSP00000480694.1:n.1-48435_1-48433dup
NM_015384.4:c.4749_4751dup	NP_056199.2:p.Leu1584_Leu1585insLeu
NM_133433.3:c.4749_4751dup	NP_597677.2:p.Leu1584_Leu1585insLeu
XM_005248280.2:c.4749_4751dup	XP_005248337.1:p.Leu1584_Leu1585insLeu
XM_005248282.3:c.4005_4007dup	XP_005248339.2:p.Leu1336_Leu1337insLeu
XM_006714467.2:c.4749_4751dup	XP_006714530.1:p.Leu1584_Leu1585insLeu
XM_006714468.1:c.4551_4553dup	XP_006714531.1:p.Leu1518_Leu1519insLeu
XM_011514014.1:c.4368_4370dup	XP_011512316.1:p.Leu1457_Leu1458insLeu
XM_011514015.1:c.4749_4751dup	XP_011512317.1:p.Leu1584_Leu1585insLeu
XM_005248280.3:c.4749_4751dup	XP_005248337.1:p.Leu1584_Leu1585insLeu
XM_005248282.5:c.4089_4091dup	XP_005248339.3:p.Leu1364_Leu1365insLeu
XM_006714468.2:c.4551_4553dup	XP_006714531.1:p.Leu1518_Leu1519insLeu
XM_017009329.1:c.4749_4751dup	XP_016864818.1:p.Leu1584_Leu1585insLeu
XM_017009330.2:c.3132_3134dup	XP_016864819.1:p.Leu1045_Leu1046insLeu
XM_017009331.1:c.3123_3125dup	XP_016864820.1:p.Leu1042_Leu1043insLeu
NM_133433.4:c.4749_4751dup MANE Select	NP_597677.2:p.Leu1584_Leu1585insLeu
NM_015384.5:c.4749_4751dup	NP_056199.2:p.Leu1584_Leu1585insLeu