Canonical Allele Identifier: CA1539593191

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995918_36995920delinsAAC , CM000667.2:g.36995918_36995920delinsAAC	GRCh38
NC_000005.9:g.36996020_36996022delinsAAC , CM000667.1:g.36996020_36996022delinsAAC	GRCh37
NC_000005.8:g.37031777_37031779delinsAAC	NCBI36
NG_006987.1:g.124036_124038delinsAAC
NG_006987.2:g.124036_124038delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+114_3304+116delinsAAC MANE Select	ENSP00000282516.8:n.3304+114_3304+116delinsAAC
ENST00000652901.1:c.3304+114_3304+116delinsAAC	ENSP00000499536.1:n.3304+114_3304+116delinsAAC
ENST00000282516.12:c.3304+114_3304+116delinsAAC	ENSP00000282516.8:n.3304+114_3304+116delinsAAC
ENST00000448238.2:c.3304+114_3304+116delinsAAC	ENSP00000406266.2:n.3304+114_3304+116delinsAAC
ENST00000503274.1:n.655+114_655+116delinsAAC
ENST00000504430.5:n.2924+114_2924+116delinsAAC
ENST00000509429.1:n.55+114_55+116delinsAAC
ENST00000621733.1:c.1-68660_1-68658delinsAAC	ENSP00000480694.1:n.1-68660_1-68658delinsAAC
NM_015384.4:c.3304+114_3304+116delinsAAC	NP_056199.2:n.3304+114_3304+116delinsAAC
NM_133433.3:c.3304+114_3304+116delinsAAC	NP_597677.2:n.3304+114_3304+116delinsAAC
XM_005248280.2:c.3304+114_3304+116delinsAAC	XP_005248337.1:n.3304+114_3304+116delinsAAC
XM_005248282.3:c.2560+114_2560+116delinsAAC	XP_005248339.2:n.2560+114_2560+116delinsAAC
XM_006714467.2:c.3304+114_3304+116delinsAAC	XP_006714530.1:n.3304+114_3304+116delinsAAC
XM_006714468.1:c.3304+114_3304+116delinsAAC	XP_006714531.1:n.3304+114_3304+116delinsAAC
XM_011514014.1:c.3122-4899_3122-4897delinsAAC	XP_011512316.1:n.3122-4899_3122-4897delinsAAC
XM_011514015.1:c.3304+114_3304+116delinsAAC	XP_011512317.1:n.3304+114_3304+116delinsAAC
XM_005248280.3:c.3304+114_3304+116delinsAAC	XP_005248337.1:n.3304+114_3304+116delinsAAC
XM_005248282.5:c.2644+114_2644+116delinsAAC	XP_005248339.3:n.2644+114_2644+116delinsAAC
XM_006714468.2:c.3304+114_3304+116delinsAAC	XP_006714531.1:n.3304+114_3304+116delinsAAC
XM_017009329.1:c.3304+114_3304+116delinsAAC	XP_016864818.1:n.3304+114_3304+116delinsAAC
XM_017009330.2:c.1687+114_1687+116delinsAAC	XP_016864819.1:n.1687+114_1687+116delinsAAC
XM_017009331.1:c.1678+114_1678+116delinsAAC	XP_016864820.1:n.1678+114_1678+116delinsAAC
NM_133433.4:c.3304+114_3304+116delinsAAC MANE Select	NP_597677.2:n.3304+114_3304+116delinsAAC
NM_015384.5:c.3304+114_3304+116delinsAAC	NP_056199.2:n.3304+114_3304+116delinsAAC