Canonical Allele Identifier: CA658820581
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958220dup , CM000667.2:g.36958220dup GRCh38
NC_000005.9:g.36958322dup , CM000667.1:g.36958322dup GRCh37
NC_000005.8:g.36994079dup NCBI36
NG_006987.1:g.86338dup
NG_006987.2:g.86338dup

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.347dup MANE Select ENSP00000282516.8:p.Tyr116Ter
ENST00000652901.1:c.347dup ENSP00000499536.1:p.Tyr116Ter
ENST00000282516.12:c.347dup ENSP00000282516.8:p.Tyr116Ter
ENST00000448238.2:c.347dup ENSP00000406266.2:p.Tyr116Ter
ENST00000505998.5:n.326dup
ENST00000621733.1:c.-1+81198dup ENSP00000480694.1:n.-1+81198dup
NM_015384.4:c.347dup NP_056199.2:p.Tyr116Ter
NM_133433.3:c.347dup NP_597677.2:p.Tyr116Ter
XM_005248280.2:c.347dup XP_005248337.1:p.Tyr116Ter
XM_006714467.2:c.347dup XP_006714530.1:p.Tyr116Ter
XM_006714468.1:c.347dup XP_006714531.1:p.Tyr116Ter
XM_011514014.1:c.347dup XP_011512316.1:p.Tyr116Ter
XM_011514015.1:c.347dup XP_011512317.1:p.Tyr116Ter
XM_005248280.3:c.347dup XP_005248337.1:p.Tyr116Ter
XM_006714468.2:c.347dup XP_006714531.1:p.Tyr116Ter
XM_017009329.1:c.347dup XP_016864818.1:p.Tyr116Ter
XM_017009331.1:c.347dup XP_016864820.1:p.Tyr116Ter
NM_133433.4:c.347dup MANE Select NP_597677.2:p.Tyr116Ter
NM_015384.5:c.347dup NP_056199.2:p.Tyr116Ter