Canonical Allele Identifier: CA2765898634

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976424dup , CM000667.2:g.36976424dup	GRCh38
NC_000005.9:g.36976526dup , CM000667.1:g.36976526dup	GRCh37
NC_000005.8:g.37012283dup	NCBI36
NG_006987.1:g.104542dup
NG_006987.2:g.104542dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1495+22dup MANE Select	ENSP00000282516.8:n.1495+22dup
ENST00000652901.1:c.1495+22dup	ENSP00000499536.1:n.1495+22dup
ENST00000282516.12:c.1495+22dup	ENSP00000282516.8:n.1495+22dup
ENST00000448238.2:c.1495+22dup	ENSP00000406266.2:n.1495+22dup
ENST00000504430.5:n.1115+22dup
ENST00000621733.1:c.1-88154dup	ENSP00000480694.1:n.1-88154dup
NM_015384.4:c.1495+22dup	NP_056199.2:n.1495+22dup
NM_133433.3:c.1495+22dup	NP_597677.2:n.1495+22dup
XM_005248280.2:c.1495+22dup	XP_005248337.1:n.1495+22dup
XM_005248282.3:c.751+22dup	XP_005248339.2:n.751+22dup
XM_006714467.2:c.1495+22dup	XP_006714530.1:n.1495+22dup
XM_006714468.1:c.1495+22dup	XP_006714531.1:n.1495+22dup
XM_011514014.1:c.1495+22dup	XP_011512316.1:n.1495+22dup
XM_011514015.1:c.1495+22dup	XP_011512317.1:n.1495+22dup
XM_005248280.3:c.1495+22dup	XP_005248337.1:n.1495+22dup
XM_005248282.5:c.835+22dup	XP_005248339.3:n.835+22dup
XM_006714468.2:c.1495+22dup	XP_006714531.1:n.1495+22dup
XM_017009329.1:c.1495+22dup	XP_016864818.1:n.1495+22dup
XM_017009331.1:c.1495+22dup	XP_016864820.1:n.1495+22dup
NM_133433.4:c.1495+22dup MANE Select	NP_597677.2:n.1495+22dup
NM_015384.5:c.1495+22dup	NP_056199.2:n.1495+22dup