Canonical Allele Identifier: CA1539618685

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045630_37045632delinsCAT , CM000667.2:g.37045630_37045632delinsCAT	GRCh38
NC_000005.9:g.37045732_37045734delinsCAT , CM000667.1:g.37045732_37045734delinsCAT	GRCh37
NC_000005.8:g.37081489_37081491delinsCAT	NCBI36
NG_006987.1:g.173748_173750delinsCAT
NG_006987.2:g.173748_173750delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6498+33_6498+35delinsCAT MANE Select	ENSP00000282516.8:n.6498+33_6498+35delinsCAT
ENST00000652901.1:c.6498+33_6498+35delinsCAT	ENSP00000499536.1:n.6498+33_6498+35delinsCAT
ENST00000282516.12:c.6498+33_6498+35delinsCAT	ENSP00000282516.8:n.6498+33_6498+35delinsCAT
ENST00000448238.2:c.6498+33_6498+35delinsCAT	ENSP00000406266.2:n.6498+33_6498+35delinsCAT
ENST00000621733.1:c.1-18948_1-18946delinsCAT	ENSP00000480694.1:n.1-18948_1-18946delinsCAT
NM_015384.4:c.6498+33_6498+35delinsCAT	NP_056199.2:n.6498+33_6498+35delinsCAT
NM_133433.3:c.6498+33_6498+35delinsCAT	NP_597677.2:n.6498+33_6498+35delinsCAT
XM_005248280.2:c.6498+33_6498+35delinsCAT	XP_005248337.1:n.6498+33_6498+35delinsCAT
XM_005248282.3:c.5754+33_5754+35delinsCAT	XP_005248339.2:n.5754+33_5754+35delinsCAT
XM_006714467.2:c.6498+33_6498+35delinsCAT	XP_006714530.1:n.6498+33_6498+35delinsCAT
XM_006714468.1:c.6300+33_6300+35delinsCAT	XP_006714531.1:n.6300+33_6300+35delinsCAT
XM_011514014.1:c.6117+33_6117+35delinsCAT	XP_011512316.1:n.6117+33_6117+35delinsCAT
XM_011514015.1:c.6498+33_6498+35delinsCAT	XP_011512317.1:n.6498+33_6498+35delinsCAT
XM_005248280.3:c.6498+33_6498+35delinsCAT	XP_005248337.1:n.6498+33_6498+35delinsCAT
XM_005248282.5:c.5838+33_5838+35delinsCAT	XP_005248339.3:n.5838+33_5838+35delinsCAT
XM_006714468.2:c.6300+33_6300+35delinsCAT	XP_006714531.1:n.6300+33_6300+35delinsCAT
XM_017009329.1:c.6498+33_6498+35delinsCAT	XP_016864818.1:n.6498+33_6498+35delinsCAT
XM_017009330.2:c.4881+33_4881+35delinsCAT	XP_016864819.1:n.4881+33_4881+35delinsCAT
XM_017009331.1:c.4872+33_4872+35delinsCAT	XP_016864820.1:n.4872+33_4872+35delinsCAT
NM_133433.4:c.6498+33_6498+35delinsCAT MANE Select	NP_597677.2:n.6498+33_6498+35delinsCAT
NM_015384.5:c.6498+33_6498+35delinsCAT	NP_056199.2:n.6498+33_6498+35delinsCAT