Canonical Allele Identifier: CA3052267031

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985587_36985588insCTT , CM000667.2:g.36985587_36985588insCTT	GRCh38
NC_000005.9:g.36985689_36985690insCTT , CM000667.1:g.36985689_36985690insCTT	GRCh37
NC_000005.8:g.37021446_37021447insCTT	NCBI36
NG_006987.1:g.113705_113706insCTT
NG_006987.2:g.113705_113706insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2407_2408insCTT MANE Select	ENSP00000282516.8:p.Gln803ProfsTer2
ENST00000652901.1:c.2407_2408insCTT	ENSP00000499536.1:p.Gln803ProfsTer2
ENST00000282516.12:c.2407_2408insCTT	ENSP00000282516.8:p.Gln803ProfsTer2
ENST00000448238.2:c.2407_2408insCTT	ENSP00000406266.2:p.Gln803ProfsTer2
ENST00000504430.5:n.2027_2028insCTT
ENST00000621733.1:c.1-78991_1-78990insCTT	ENSP00000480694.1:n.1-78991_1-78990insCTT
NM_015384.4:c.2407_2408insCTT	NP_056199.2:p.Gln803ProfsTer2
NM_133433.3:c.2407_2408insCTT	NP_597677.2:p.Gln803ProfsTer2
XM_005248280.2:c.2407_2408insCTT	XP_005248337.1:p.Gln803ProfsTer2
XM_005248282.3:c.1663_1664insCTT	XP_005248339.2:p.Gln555ProfsTer2
XM_006714467.2:c.2407_2408insCTT	XP_006714530.1:p.Gln803ProfsTer2
XM_006714468.1:c.2407_2408insCTT	XP_006714531.1:p.Gln803ProfsTer2
XM_011514014.1:c.2407_2408insCTT	XP_011512316.1:p.Gln803ProfsTer2
XM_011514015.1:c.2407_2408insCTT	XP_011512317.1:p.Gln803ProfsTer2
XM_005248280.3:c.2407_2408insCTT	XP_005248337.1:p.Gln803ProfsTer2
XM_005248282.5:c.1747_1748insCTT	XP_005248339.3:p.Gln583ProfsTer2
XM_006714468.2:c.2407_2408insCTT	XP_006714531.1:p.Gln803ProfsTer2
XM_017009329.1:c.2407_2408insCTT	XP_016864818.1:p.Gln803ProfsTer2
XM_017009330.2:c.790_791insCTT	XP_016864819.1:p.Gln264ProfsTer2
XM_017009331.1:c.1495+9185_1495+9186insCTT	XP_016864820.1:n.1495+9185_1495+9186insCTT
NM_133433.4:c.2407_2408insCTT MANE Select	NP_597677.2:p.Gln803ProfsTer2
NM_015384.5:c.2407_2408insCTT	NP_056199.2:p.Gln803ProfsTer2