Canonical Allele Identifier: CA559295287
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1193954323

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045612_37045613insTTTA , CM000667.2:g.37045612_37045613insTTTA GRCh38
NC_000005.9:g.37045714_37045715insTTTA , CM000667.1:g.37045714_37045715insTTTA GRCh37
NC_000005.8:g.37081471_37081472insTTTA NCBI36
NG_006987.1:g.173730_173731insTTTA
NG_006987.2:g.173730_173731insTTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6498+15_6498+16insTTTA MANE Select ENSP00000282516.8:n.6498+15_6498+16insTTT...
ENST00000652901.1:c.6498+15_6498+16insTTTA ENSP00000499536.1:n.6498+15_6498+16insTTT...
ENST00000282516.12:c.6498+15_6498+16insTTTA ENSP00000282516.8:n.6498+15_6498+16insTTT...
ENST00000448238.2:c.6498+15_6498+16insTTTA ENSP00000406266.2:n.6498+15_6498+16insTTT...
ENST00000621733.1:c.1-18966_1-18965insTTTA ENSP00000480694.1:n.1-18966_1-18965insTTT...
NM_015384.4:c.6498+15_6498+16insTTTA NP_056199.2:n.6498+15_6498+16insTTTA
NM_133433.3:c.6498+15_6498+16insTTTA NP_597677.2:n.6498+15_6498+16insTTTA
XM_005248280.2:c.6498+15_6498+16insTTTA XP_005248337.1:n.6498+15_6498+16insTTTA
XM_005248282.3:c.5754+15_5754+16insTTTA XP_005248339.2:n.5754+15_5754+16insTTTA
XM_006714467.2:c.6498+15_6498+16insTTTA XP_006714530.1:n.6498+15_6498+16insTTTA
XM_006714468.1:c.6300+15_6300+16insTTTA XP_006714531.1:n.6300+15_6300+16insTTTA
XM_011514014.1:c.6117+15_6117+16insTTTA XP_011512316.1:n.6117+15_6117+16insTTTA
XM_011514015.1:c.6498+15_6498+16insTTTA XP_011512317.1:n.6498+15_6498+16insTTTA
XM_005248280.3:c.6498+15_6498+16insTTTA XP_005248337.1:n.6498+15_6498+16insTTTA
XM_005248282.5:c.5838+15_5838+16insTTTA XP_005248339.3:n.5838+15_5838+16insTTTA
XM_006714468.2:c.6300+15_6300+16insTTTA XP_006714531.1:n.6300+15_6300+16insTTTA
XM_017009329.1:c.6498+15_6498+16insTTTA XP_016864818.1:n.6498+15_6498+16insTTTA
XM_017009330.2:c.4881+15_4881+16insTTTA XP_016864819.1:n.4881+15_4881+16insTTTA
XM_017009331.1:c.4872+15_4872+16insTTTA XP_016864820.1:n.4872+15_4872+16insTTTA
NM_133433.4:c.6498+15_6498+16insTTTA MANE Select NP_597677.2:n.6498+15_6498+16insTTTA
NM_015384.5:c.6498+15_6498+16insTTTA NP_056199.2:n.6498+15_6498+16insTTTA