Canonical Allele Identifier: CA2765898642

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976433_36976435del , CM000667.2:g.36976433_36976435del	GRCh38
NC_000005.9:g.36976535_36976537del , CM000667.1:g.36976535_36976537del	GRCh37
NC_000005.8:g.37012292_37012294del	NCBI36
NG_006987.1:g.104551_104553del
NG_006987.2:g.104551_104553del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1495+31_1495+33del MANE Select	ENSP00000282516.8:n.1495+31_1495+33del
ENST00000652901.1:c.1495+31_1495+33del	ENSP00000499536.1:n.1495+31_1495+33del
ENST00000282516.12:c.1495+31_1495+33del	ENSP00000282516.8:n.1495+31_1495+33del
ENST00000448238.2:c.1495+31_1495+33del	ENSP00000406266.2:n.1495+31_1495+33del
ENST00000504430.5:n.1115+31_1115+33del
ENST00000621733.1:c.1-88145_1-88143del	ENSP00000480694.1:n.1-88145_1-88143del
NM_015384.4:c.1495+31_1495+33del	NP_056199.2:n.1495+31_1495+33del
NM_133433.3:c.1495+31_1495+33del	NP_597677.2:n.1495+31_1495+33del
XM_005248280.2:c.1495+31_1495+33del	XP_005248337.1:n.1495+31_1495+33del
XM_005248282.3:c.751+31_751+33del	XP_005248339.2:n.751+31_751+33del
XM_006714467.2:c.1495+31_1495+33del	XP_006714530.1:n.1495+31_1495+33del
XM_006714468.1:c.1495+31_1495+33del	XP_006714531.1:n.1495+31_1495+33del
XM_011514014.1:c.1495+31_1495+33del	XP_011512316.1:n.1495+31_1495+33del
XM_011514015.1:c.1495+31_1495+33del	XP_011512317.1:n.1495+31_1495+33del
XM_005248280.3:c.1495+31_1495+33del	XP_005248337.1:n.1495+31_1495+33del
XM_005248282.5:c.835+31_835+33del	XP_005248339.3:n.835+31_835+33del
XM_006714468.2:c.1495+31_1495+33del	XP_006714531.1:n.1495+31_1495+33del
XM_017009329.1:c.1495+31_1495+33del	XP_016864818.1:n.1495+31_1495+33del
XM_017009331.1:c.1495+31_1495+33del	XP_016864820.1:n.1495+31_1495+33del
NM_133433.4:c.1495+31_1495+33del MANE Select	NP_597677.2:n.1495+31_1495+33del
NM_015384.5:c.1495+31_1495+33del	NP_056199.2:n.1495+31_1495+33del