Canonical Allele Identifier: CA559295286
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1167724948

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045601_37045606del , CM000667.2:g.37045601_37045606del GRCh38
NC_000005.9:g.37045703_37045708del , CM000667.1:g.37045703_37045708del GRCh37
NC_000005.8:g.37081460_37081465del NCBI36
NG_006987.1:g.173719_173724del
NG_006987.2:g.173719_173724del

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6498+4_6498+9del
ENST00000652901.1:c.6498+4_6498+9del
ENST00000282516.12:c.6498+4_6498+9del
ENST00000448238.2:c.6498+4_6498+9del
ENST00000621733.1:c.1-18977_1-18972del ENSP00000480694.1:n.1-18977_1-18972del
NM_015384.4:c.6498+4_6498+9del
NM_133433.3:c.6498+4_6498+9del
XM_005248280.2:c.6498+4_6498+9del
XM_005248282.3:c.5754+4_5754+9del
XM_006714467.2:c.6498+4_6498+9del
XM_006714468.1:c.6300+4_6300+9del
XM_011514014.1:c.6117+4_6117+9del
XM_011514015.1:c.6498+4_6498+9del
XM_005248280.3:c.6498+4_6498+9del
XM_005248282.5:c.5838+4_5838+9del
XM_006714468.2:c.6300+4_6300+9del
XM_017009329.1:c.6498+4_6498+9del
XM_017009330.2:c.4881+4_4881+9del
XM_017009331.1:c.4872+4_4872+9del
NM_133433.4:c.6498+4_6498+9del
NM_015384.5:c.6498+4_6498+9del