Canonical Allele Identifier: CA2708536896

Gene: NIPBL

Linked Data

• dbSNP Id: rs2149662481

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995630_36995631del , CM000667.2:g.36995630_36995631del	GRCh38
NC_000005.9:g.36995732_36995733del , CM000667.1:g.36995732_36995733del	GRCh37
NC_000005.8:g.37031489_37031490del	NCBI36
NG_006987.1:g.123748_123749del
NG_006987.2:g.123748_123749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3130_3131del MANE Select	ENSP00000282516.8:p.Asp1044SerfsTer10
ENST00000652901.1:c.3130_3131del	ENSP00000499536.1:p.Asp1044SerfsTer10
ENST00000282516.12:c.3130_3131del	ENSP00000282516.8:p.Asp1044SerfsTer10
ENST00000448238.2:c.3130_3131del	ENSP00000406266.2:p.Asp1044SerfsTer10
ENST00000503274.1:n.481_482del
ENST00000504430.5:n.2750_2751del
ENST00000621733.1:c.1-68948_1-68947del	ENSP00000480694.1:n.1-68948_1-68947del
NM_015384.4:c.3130_3131del	NP_056199.2:p.Asp1044SerfsTer10
NM_133433.3:c.3130_3131del	NP_597677.2:p.Asp1044SerfsTer10
XM_005248280.2:c.3130_3131del	XP_005248337.1:p.Asp1044SerfsTer10
XM_005248282.3:c.2386_2387del	XP_005248339.2:p.Asp796SerfsTer10
XM_006714467.2:c.3130_3131del	XP_006714530.1:p.Asp1044SerfsTer10
XM_006714468.1:c.3130_3131del	XP_006714531.1:p.Asp1044SerfsTer10
XM_011514014.1:c.3122-5187_3122-5186del	XP_011512316.1:n.3122-5187_3122-5186del
XM_011514015.1:c.3130_3131del	XP_011512317.1:p.Asp1044SerfsTer10
XM_005248280.3:c.3130_3131del	XP_005248337.1:p.Asp1044SerfsTer10
XM_005248282.5:c.2470_2471del	XP_005248339.3:p.Asp824SerfsTer10
XM_006714468.2:c.3130_3131del	XP_006714531.1:p.Asp1044SerfsTer10
XM_017009329.1:c.3130_3131del	XP_016864818.1:p.Asp1044SerfsTer10
XM_017009330.2:c.1513_1514del	XP_016864819.1:p.Asp505SerfsTer10
XM_017009331.1:c.1504_1505del	XP_016864820.1:p.Asp502SerfsTer10
NM_133433.4:c.3130_3131del MANE Select	NP_597677.2:p.Asp1044SerfsTer10
NM_015384.5:c.3130_3131del	NP_056199.2:p.Asp1044SerfsTer10