Canonical Allele Identifier: CA2695204326

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985471_36985472insC , CM000667.2:g.36985471_36985472insC	GRCh38
NC_000005.9:g.36985573_36985574insC , CM000667.1:g.36985573_36985574insC	GRCh37
NC_000005.8:g.37021330_37021331insC	NCBI36
NG_006987.1:g.113589_113590insC
NG_006987.2:g.113589_113590insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2291_2292insC MANE Select	ENSP00000282516.8:p.Arg765Ter
ENST00000652901.1:c.2291_2292insC	ENSP00000499536.1:p.Arg765Ter
ENST00000282516.12:c.2291_2292insC	ENSP00000282516.8:p.Arg765Ter
ENST00000448238.2:c.2291_2292insC	ENSP00000406266.2:p.Arg765Ter
ENST00000504430.5:n.1911_1912insC
ENST00000621733.1:c.1-79107_1-79106insC	ENSP00000480694.1:n.1-79107_1-79106insC
NM_015384.4:c.2291_2292insC	NP_056199.2:p.Arg765Ter
NM_133433.3:c.2291_2292insC	NP_597677.2:p.Arg765Ter
XM_005248280.2:c.2291_2292insC	XP_005248337.1:p.Arg765Ter
XM_005248282.3:c.1547_1548insC	XP_005248339.2:p.Arg517Ter
XM_006714467.2:c.2291_2292insC	XP_006714530.1:p.Arg765Ter
XM_006714468.1:c.2291_2292insC	XP_006714531.1:p.Arg765Ter
XM_011514014.1:c.2291_2292insC	XP_011512316.1:p.Arg765Ter
XM_011514015.1:c.2291_2292insC	XP_011512317.1:p.Arg765Ter
XM_005248280.3:c.2291_2292insC	XP_005248337.1:p.Arg765Ter
XM_005248282.5:c.1631_1632insC	XP_005248339.3:p.Arg545Ter
XM_006714468.2:c.2291_2292insC	XP_006714531.1:p.Arg765Ter
XM_017009329.1:c.2291_2292insC	XP_016864818.1:p.Arg765Ter
XM_017009330.2:c.674_675insC	XP_016864819.1:p.Arg226Ter
XM_017009331.1:c.1495+9069_1495+9070insC	XP_016864820.1:n.1495+9069_1495+9070insC
NM_133433.4:c.2291_2292insC MANE Select	NP_597677.2:p.Arg765Ter
NM_015384.5:c.2291_2292insC	NP_056199.2:p.Arg765Ter