Canonical Allele Identifier: CA1539571577

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051961_37051962delinsGC , CM000667.2:g.37051961_37051962delinsGC	GRCh38
NC_000005.9:g.37052063_37052064delinsGC , CM000667.1:g.37052063_37052064delinsGC	GRCh37
NC_000005.8:g.37087820_37087821delinsGC	NCBI36
NG_006987.1:g.180079_180080delinsGC
NG_006987.2:g.180079_180080delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7062+75_7062+76delinsGC MANE Select	ENSP00000282516.8:n.7062+75_7062+76delinsGC
ENST00000652901.1:c.7062+75_7062+76delinsGC	ENSP00000499536.1:n.7062+75_7062+76delinsGC
ENST00000282516.12:c.7062+75_7062+76delinsGC	ENSP00000282516.8:n.7062+75_7062+76delinsGC
ENST00000448238.2:c.7062+75_7062+76delinsGC	ENSP00000406266.2:n.7062+75_7062+76delinsGC
ENST00000514335.1:n.944+75_944+76delinsGC
ENST00000621733.1:c.1-12617_1-12616delinsGC	ENSP00000480694.1:n.1-12617_1-12616delinsGC
NM_015384.4:c.7062+75_7062+76delinsGC	NP_056199.2:n.7062+75_7062+76delinsGC
NM_133433.3:c.7062+75_7062+76delinsGC	NP_597677.2:n.7062+75_7062+76delinsGC
XM_005248280.2:c.7062+75_7062+76delinsGC	XP_005248337.1:n.7062+75_7062+76delinsGC
XM_005248282.3:c.6318+75_6318+76delinsGC	XP_005248339.2:n.6318+75_6318+76delinsGC
XM_006714467.2:c.7062+75_7062+76delinsGC	XP_006714530.1:n.7062+75_7062+76delinsGC
XM_006714468.1:c.6864+75_6864+76delinsGC	XP_006714531.1:n.6864+75_6864+76delinsGC
XM_011514014.1:c.6681+75_6681+76delinsGC	XP_011512316.1:n.6681+75_6681+76delinsGC
XM_011514015.1:c.7062+75_7062+76delinsGC	XP_011512317.1:n.7062+75_7062+76delinsGC
XM_005248280.3:c.7062+75_7062+76delinsGC	XP_005248337.1:n.7062+75_7062+76delinsGC
XM_005248282.5:c.6402+75_6402+76delinsGC	XP_005248339.3:n.6402+75_6402+76delinsGC
XM_006714468.2:c.6864+75_6864+76delinsGC	XP_006714531.1:n.6864+75_6864+76delinsGC
XM_017009329.1:c.7062+75_7062+76delinsGC	XP_016864818.1:n.7062+75_7062+76delinsGC
XM_017009330.2:c.5445+75_5445+76delinsGC	XP_016864819.1:n.5445+75_5445+76delinsGC
XM_017009331.1:c.5436+75_5436+76delinsGC	XP_016864820.1:n.5436+75_5436+76delinsGC
NM_133433.4:c.7062+75_7062+76delinsGC MANE Select	NP_597677.2:n.7062+75_7062+76delinsGC
NM_015384.5:c.7062+75_7062+76delinsGC	NP_056199.2:n.7062+75_7062+76delinsGC