Canonical Allele Identifier: CA2765897918

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985530_36985531insCAAACACACCC , CM000667.2:g.36985530_36985531insCAAACACACCC	GRCh38
NC_000005.9:g.36985632_36985633insCAAACACACCC , CM000667.1:g.36985632_36985633insCAAACACACCC	GRCh37
NC_000005.8:g.37021389_37021390insCAAACACACCC	NCBI36
NG_006987.1:g.113648_113649insCAAACACACCC
NG_006987.2:g.113648_113649insCAAACACACCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2350_2351insCAAACACACCC MANE Select	ENSP00000282516.8:p.Gln784ProfsTer14
ENST00000652901.1:c.2350_2351insCAAACACACCC	ENSP00000499536.1:p.Gln784ProfsTer14
ENST00000282516.12:c.2350_2351insCAAACACACCC	ENSP00000282516.8:p.Gln784ProfsTer14
ENST00000448238.2:c.2350_2351insCAAACACACCC	ENSP00000406266.2:p.Gln784ProfsTer14
ENST00000504430.5:n.1970_1971insCAAACACACCC
ENST00000621733.1:c.1-79048_1-79047insCAAACACACCC	ENSP00000480694.1:n.1-79048_1-79047insCAAACACACCC
NM_015384.4:c.2350_2351insCAAACACACCC	NP_056199.2:p.Gln784ProfsTer14
NM_133433.3:c.2350_2351insCAAACACACCC	NP_597677.2:p.Gln784ProfsTer14
XM_005248280.2:c.2350_2351insCAAACACACCC	XP_005248337.1:p.Gln784ProfsTer14
XM_005248282.3:c.1606_1607insCAAACACACCC	XP_005248339.2:p.Gln536ProfsTer14
XM_006714467.2:c.2350_2351insCAAACACACCC	XP_006714530.1:p.Gln784ProfsTer14
XM_006714468.1:c.2350_2351insCAAACACACCC	XP_006714531.1:p.Gln784ProfsTer14
XM_011514014.1:c.2350_2351insCAAACACACCC	XP_011512316.1:p.Gln784ProfsTer14
XM_011514015.1:c.2350_2351insCAAACACACCC	XP_011512317.1:p.Gln784ProfsTer14
XM_005248280.3:c.2350_2351insCAAACACACCC	XP_005248337.1:p.Gln784ProfsTer14
XM_005248282.5:c.1690_1691insCAAACACACCC	XP_005248339.3:p.Gln564ProfsTer14
XM_006714468.2:c.2350_2351insCAAACACACCC	XP_006714531.1:p.Gln784ProfsTer14
XM_017009329.1:c.2350_2351insCAAACACACCC	XP_016864818.1:p.Gln784ProfsTer14
XM_017009330.2:c.733_734insCAAACACACCC	XP_016864819.1:p.Gln245ProfsTer14
XM_017009331.1:c.1495+9128_1495+9129insCAAACACACCC	XP_016864820.1:n.1495+9128_1495+9129insCAAACACACCC
NM_133433.4:c.2350_2351insCAAACACACCC MANE Select	NP_597677.2:p.Gln784ProfsTer14
NM_015384.5:c.2350_2351insCAAACACACCC	NP_056199.2:p.Gln784ProfsTer14