Canonical Allele Identifier: CA1539568742

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049531_37049533delinsCAT , CM000667.2:g.37049531_37049533delinsCAT	GRCh38
NC_000005.9:g.37049633_37049635delinsCAT , CM000667.1:g.37049633_37049635delinsCAT	GRCh37
NC_000005.8:g.37085390_37085392delinsCAT	NCBI36
NG_006987.1:g.177649_177651delinsCAT
NG_006987.2:g.177649_177651delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6954+230_6954+232delinsCAT MANE Select	ENSP00000282516.8:n.6954+230_6954+232delinsCAT
ENST00000652901.1:c.6954+230_6954+232delinsCAT	ENSP00000499536.1:n.6954+230_6954+232delinsCAT
ENST00000282516.12:c.6954+230_6954+232delinsCAT	ENSP00000282516.8:n.6954+230_6954+232delinsCAT
ENST00000448238.2:c.6954+230_6954+232delinsCAT	ENSP00000406266.2:n.6954+230_6954+232delinsCAT
ENST00000621733.1:c.1-15047_1-15045delinsCAT	ENSP00000480694.1:n.1-15047_1-15045delinsCAT
NM_015384.4:c.6954+230_6954+232delinsCAT	NP_056199.2:n.6954+230_6954+232delinsCAT
NM_133433.3:c.6954+230_6954+232delinsCAT	NP_597677.2:n.6954+230_6954+232delinsCAT
XM_005248280.2:c.6954+230_6954+232delinsCAT	XP_005248337.1:n.6954+230_6954+232delinsCAT
XM_005248282.3:c.6210+230_6210+232delinsCAT	XP_005248339.2:n.6210+230_6210+232delinsCAT
XM_006714467.2:c.6954+230_6954+232delinsCAT	XP_006714530.1:n.6954+230_6954+232delinsCAT
XM_006714468.1:c.6756+230_6756+232delinsCAT	XP_006714531.1:n.6756+230_6756+232delinsCAT
XM_011514014.1:c.6573+230_6573+232delinsCAT	XP_011512316.1:n.6573+230_6573+232delinsCAT
XM_011514015.1:c.6954+230_6954+232delinsCAT	XP_011512317.1:n.6954+230_6954+232delinsCAT
XM_005248280.3:c.6954+230_6954+232delinsCAT	XP_005248337.1:n.6954+230_6954+232delinsCAT
XM_005248282.5:c.6294+230_6294+232delinsCAT	XP_005248339.3:n.6294+230_6294+232delinsCAT
XM_006714468.2:c.6756+230_6756+232delinsCAT	XP_006714531.1:n.6756+230_6756+232delinsCAT
XM_017009329.1:c.6954+230_6954+232delinsCAT	XP_016864818.1:n.6954+230_6954+232delinsCAT
XM_017009330.2:c.5337+230_5337+232delinsCAT	XP_016864819.1:n.5337+230_5337+232delinsCAT
XM_017009331.1:c.5328+230_5328+232delinsCAT	XP_016864820.1:n.5328+230_5328+232delinsCAT
NM_133433.4:c.6954+230_6954+232delinsCAT MANE Select	NP_597677.2:n.6954+230_6954+232delinsCAT
NM_015384.5:c.6954+230_6954+232delinsCAT	NP_056199.2:n.6954+230_6954+232delinsCAT