Canonical Allele Identifier: CA1539609356

Gene: NIPBL

Linked Data

• dbSNP Id: rs1747949417

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37010233_37010252del , CM000667.2:g.37010233_37010252del	GRCh38
NC_000005.9:g.37010335_37010354del , CM000667.1:g.37010335_37010354del	GRCh37
NC_000005.8:g.37046092_37046111del	NCBI36
NG_006987.1:g.138351_138370del
NG_006987.2:g.138351_138370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4560+8_4560+27del MANE Select	ENSP00000282516.8:n.4560+8_4560+27del
ENST00000652901.1:c.4560+8_4560+27del	ENSP00000499536.1:n.4560+8_4560+27del
ENST00000282516.12:c.4560+8_4560+27del	ENSP00000282516.8:n.4560+8_4560+27del
ENST00000448238.2:c.4560+8_4560+27del	ENSP00000406266.2:n.4560+8_4560+27del
ENST00000621733.1:c.1-54345_1-54326del	ENSP00000480694.1:n.1-54345_1-54326del
NM_015384.4:c.4560+8_4560+27del	NP_056199.2:n.4560+8_4560+27del
NM_133433.3:c.4560+8_4560+27del	NP_597677.2:n.4560+8_4560+27del
XM_005248280.2:c.4560+8_4560+27del	XP_005248337.1:n.4560+8_4560+27del
XM_005248282.3:c.3816+8_3816+27del	XP_005248339.2:n.3816+8_3816+27del
XM_006714467.2:c.4560+8_4560+27del	XP_006714530.1:n.4560+8_4560+27del
XM_006714468.1:c.4362+8_4362+27del	XP_006714531.1:n.4362+8_4362+27del
XM_011514014.1:c.4179+8_4179+27del	XP_011512316.1:n.4179+8_4179+27del
XM_011514015.1:c.4560+8_4560+27del	XP_011512317.1:n.4560+8_4560+27del
XM_005248280.3:c.4560+8_4560+27del	XP_005248337.1:n.4560+8_4560+27del
XM_005248282.5:c.3900+8_3900+27del	XP_005248339.3:n.3900+8_3900+27del
XM_006714468.2:c.4362+8_4362+27del	XP_006714531.1:n.4362+8_4362+27del
XM_017009329.1:c.4560+8_4560+27del	XP_016864818.1:n.4560+8_4560+27del
XM_017009330.2:c.2943+8_2943+27del	XP_016864819.1:n.2943+8_2943+27del
XM_017009331.1:c.2934+8_2934+27del	XP_016864820.1:n.2934+8_2934+27del
NM_133433.4:c.4560+8_4560+27del MANE Select	NP_597677.2:n.4560+8_4560+27del
NM_015384.5:c.4560+8_4560+27del	NP_056199.2:n.4560+8_4560+27del