Canonical Allele Identifier: CA1539611702

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038829_37038831delinsGAC , CM000667.2:g.37038829_37038831delinsGAC	GRCh38
NC_000005.9:g.37038931_37038933delinsGAC , CM000667.1:g.37038931_37038933delinsGAC	GRCh37
NC_000005.8:g.37074688_37074690delinsGAC	NCBI36
NG_006987.1:g.166947_166949delinsGAC
NG_006987.2:g.166947_166949delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6108+91_6108+93delinsGAC MANE Select	ENSP00000282516.8:n.6108+91_6108+93delinsGAC
ENST00000652901.1:c.6108+91_6108+93delinsGAC	ENSP00000499536.1:n.6108+91_6108+93delinsGAC
ENST00000282516.12:c.6108+91_6108+93delinsGAC	ENSP00000282516.8:n.6108+91_6108+93delinsGAC
ENST00000448238.2:c.6108+91_6108+93delinsGAC	ENSP00000406266.2:n.6108+91_6108+93delinsGAC
ENST00000621733.1:c.1-25749_1-25747delinsGAC	ENSP00000480694.1:n.1-25749_1-25747delinsGAC
NM_015384.4:c.6108+91_6108+93delinsGAC	NP_056199.2:n.6108+91_6108+93delinsGAC
NM_133433.3:c.6108+91_6108+93delinsGAC	NP_597677.2:n.6108+91_6108+93delinsGAC
XM_005248280.2:c.6108+91_6108+93delinsGAC	XP_005248337.1:n.6108+91_6108+93delinsGAC
XM_005248282.3:c.5364+91_5364+93delinsGAC	XP_005248339.2:n.5364+91_5364+93delinsGAC
XM_006714467.2:c.6108+91_6108+93delinsGAC	XP_006714530.1:n.6108+91_6108+93delinsGAC
XM_006714468.1:c.5910+91_5910+93delinsGAC	XP_006714531.1:n.5910+91_5910+93delinsGAC
XM_011514014.1:c.5727+91_5727+93delinsGAC	XP_011512316.1:n.5727+91_5727+93delinsGAC
XM_011514015.1:c.6108+91_6108+93delinsGAC	XP_011512317.1:n.6108+91_6108+93delinsGAC
XM_005248280.3:c.6108+91_6108+93delinsGAC	XP_005248337.1:n.6108+91_6108+93delinsGAC
XM_005248282.5:c.5448+91_5448+93delinsGAC	XP_005248339.3:n.5448+91_5448+93delinsGAC
XM_006714468.2:c.5910+91_5910+93delinsGAC	XP_006714531.1:n.5910+91_5910+93delinsGAC
XM_017009329.1:c.6108+91_6108+93delinsGAC	XP_016864818.1:n.6108+91_6108+93delinsGAC
XM_017009330.2:c.4491+91_4491+93delinsGAC	XP_016864819.1:n.4491+91_4491+93delinsGAC
XM_017009331.1:c.4482+91_4482+93delinsGAC	XP_016864820.1:n.4482+91_4482+93delinsGAC
NM_133433.4:c.6108+91_6108+93delinsGAC MANE Select	NP_597677.2:n.6108+91_6108+93delinsGAC
NM_015384.5:c.6108+91_6108+93delinsGAC	NP_056199.2:n.6108+91_6108+93delinsGAC