Canonical Allele Identifier: CA1539571414

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051834_37051836delinsAGG , CM000667.2:g.37051834_37051836delinsAGG	GRCh38
NC_000005.9:g.37051936_37051938delinsAGG , CM000667.1:g.37051936_37051938delinsAGG	GRCh37
NC_000005.8:g.37087693_37087695delinsAGG	NCBI36
NG_006987.1:g.179952_179954delinsAGG
NG_006987.2:g.179952_179954delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7010_7012delinsAGG MANE Select	ENSP00000282516.8:p.Lys2337=
ENST00000652901.1:c.7010_7012delinsAGG	ENSP00000499536.1:p.Lys2337=
ENST00000282516.12:c.7010_7012delinsAGG	ENSP00000282516.8:p.Lys2337=
ENST00000448238.2:c.7010_7012delinsAGG	ENSP00000406266.2:p.Lys2337=
ENST00000514335.1:n.892_894delinsAGG
ENST00000621733.1:c.1-12744_1-12742delinsAGG	ENSP00000480694.1:n.1-12744_1-12742delinsAGG
NM_015384.4:c.7010_7012delinsAGG	NP_056199.2:p.Lys2337=
NM_133433.3:c.7010_7012delinsAGG	NP_597677.2:p.Lys2337=
XM_005248280.2:c.7010_7012delinsAGG	XP_005248337.1:p.Lys2337=
XM_005248282.3:c.6266_6268delinsAGG	XP_005248339.2:p.Lys2089=
XM_006714467.2:c.7010_7012delinsAGG	XP_006714530.1:p.Lys2337=
XM_006714468.1:c.6812_6814delinsAGG	XP_006714531.1:p.Lys2271=
XM_011514014.1:c.6629_6631delinsAGG	XP_011512316.1:p.Lys2210=
XM_011514015.1:c.7010_7012delinsAGG	XP_011512317.1:p.Lys2337=
XM_005248280.3:c.7010_7012delinsAGG	XP_005248337.1:p.Lys2337=
XM_005248282.5:c.6350_6352delinsAGG	XP_005248339.3:p.Lys2117=
XM_006714468.2:c.6812_6814delinsAGG	XP_006714531.1:p.Lys2271=
XM_017009329.1:c.7010_7012delinsAGG	XP_016864818.1:p.Lys2337=
XM_017009330.2:c.5393_5395delinsAGG	XP_016864819.1:p.Lys1798=
XM_017009331.1:c.5384_5386delinsAGG	XP_016864820.1:p.Lys1795=
NM_133433.4:c.7010_7012delinsAGG MANE Select	NP_597677.2:p.Lys2337=
NM_015384.5:c.7010_7012delinsAGG	NP_056199.2:p.Lys2337=