Canonical Allele Identifier: CA1539580608

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984931_36984934delinsATAT , CM000667.2:g.36984931_36984934delinsATAT	GRCh38
NC_000005.9:g.36985033_36985036delinsATAT , CM000667.1:g.36985033_36985036delinsATAT	GRCh37
NC_000005.8:g.37020790_37020793delinsATAT	NCBI36
NG_006987.1:g.113049_113052delinsATAT
NG_006987.2:g.113049_113052delinsATAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1751_1754delinsATAT MANE Select	ENSP00000282516.8:p.Asp584=
ENST00000652901.1:c.1751_1754delinsATAT	ENSP00000499536.1:p.Asp584=
ENST00000282516.12:c.1751_1754delinsATAT	ENSP00000282516.8:p.Asp584=
ENST00000448238.2:c.1751_1754delinsATAT	ENSP00000406266.2:p.Asp584=
ENST00000504430.5:n.1371_1374delinsATAT
ENST00000621733.1:c.1-79647_1-79644delinsATAT	ENSP00000480694.1:n.1-79647_1-79644delins...
NM_015384.4:c.1751_1754delinsATAT	NP_056199.2:p.Asp584=
NM_133433.3:c.1751_1754delinsATAT	NP_597677.2:p.Asp584=
XM_005248280.2:c.1751_1754delinsATAT	XP_005248337.1:p.Asp584=
XM_005248282.3:c.1007_1010delinsATAT	XP_005248339.2:p.Asp336=
XM_006714467.2:c.1751_1754delinsATAT	XP_006714530.1:p.Asp584=
XM_006714468.1:c.1751_1754delinsATAT	XP_006714531.1:p.Asp584=
XM_011514014.1:c.1751_1754delinsATAT	XP_011512316.1:p.Asp584=
XM_011514015.1:c.1751_1754delinsATAT	XP_011512317.1:p.Asp584=
XM_005248280.3:c.1751_1754delinsATAT	XP_005248337.1:p.Asp584=
XM_005248282.5:c.1091_1094delinsATAT	XP_005248339.3:p.Asp364=
XM_006714468.2:c.1751_1754delinsATAT	XP_006714531.1:p.Asp584=
XM_017009329.1:c.1751_1754delinsATAT	XP_016864818.1:p.Asp584=
XM_017009330.2:c.134_137delinsATAT	XP_016864819.1:p.Asp45=
XM_017009331.1:c.1495+8529_1495+8532delinsATAT	XP_016864820.1:n.1495+8529_1495+8532delin...
NM_133433.4:c.1751_1754delinsATAT MANE Select	NP_597677.2:p.Asp584=
NM_015384.5:c.1751_1754delinsATAT	NP_056199.2:p.Asp584=