Canonical Allele Identifier: CA1539571293
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953602_36953603delinsGT , CM000667.2:g.36953602_36953603delinsGT GRCh38
NC_000005.9:g.36953704_36953705delinsGT , CM000667.1:g.36953704_36953705delinsGT GRCh37
NC_000005.8:g.36989461_36989462delinsGT NCBI36
NG_006987.1:g.81720_81721delinsGT
NG_006987.2:g.81720_81721delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.-79-16_-79-15delinsGT MANE Select ENSP00000282516.8:n.-79-16_-79-15delinsGT
ENST00000652901.1:c.-79-16_-79-15delinsGT ENSP00000499536.1:n.-79-16_-79-15delinsGT
ENST00000282516.12:c.-79-16_-79-15delinsGT ENSP00000282516.8:n.-79-16_-79-15delinsGT
ENST00000448238.2:c.-79-16_-79-15delinsGT ENSP00000406266.2:n.-79-16_-79-15delinsGT
ENST00000621733.1:c.-1+76580_-1+76581delinsGT ENSP00000480694.1:n.-1+76580_-1+76581delinsGT
NM_015384.4:c.-79-16_-79-15delinsGT NP_056199.2:n.-79-16_-79-15delinsGT
NM_133433.3:c.-79-16_-79-15delinsGT NP_597677.2:n.-79-16_-79-15delinsGT
XM_005248280.2:c.-79-16_-79-15delinsGT XP_005248337.1:n.-79-16_-79-15delinsGT
XM_006714467.2:c.-79-16_-79-15delinsGT XP_006714530.1:n.-79-16_-79-15delinsGT
XM_006714468.1:c.-79-16_-79-15delinsGT XP_006714531.1:n.-79-16_-79-15delinsGT
XM_011514014.1:c.-79-16_-79-15delinsGT XP_011512316.1:n.-79-16_-79-15delinsGT
XM_011514015.1:c.-79-16_-79-15delinsGT XP_011512317.1:n.-79-16_-79-15delinsGT
XM_005248280.3:c.-79-16_-79-15delinsGT XP_005248337.1:n.-79-16_-79-15delinsGT
XM_006714468.2:c.-79-16_-79-15delinsGT XP_006714531.1:n.-79-16_-79-15delinsGT
XM_017009329.1:c.-79-16_-79-15delinsGT XP_016864818.1:n.-79-16_-79-15delinsGT
XM_017009331.1:c.-79-16_-79-15delinsGT XP_016864820.1:n.-79-16_-79-15delinsGT
NM_133433.4:c.-79-16_-79-15delinsGT MANE Select NP_597677.2:n.-79-16_-79-15delinsGT
NM_015384.5:c.-79-16_-79-15delinsGT NP_056199.2:n.-79-16_-79-15delinsGT